Fritz J Sedlazeck (Fritz Sedlazeck, F J Sedlazeck)

Scopus Author ID Loop profile ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 148

Top Venues

Nature biotechnology

Nature communications

bioRxiv : the preprint server for biology

Nature methods

Baylor College of Medicine

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Baylor College of Medicine Apr 23 2018

United States

Assistant Professor :: Human Genome Sequencing Center

Baylor College of Medicine Apr 17 2017 - Apr 23 2018

United States

Lead Scientific Programmer :: Human Genome Sequencing Center

Johns Hopkins University Jan 01 2016 - Apr 15 2017

United States

PostDoc :: Department of Computer Science

Cold Spring Harbor Laboratory Dec 28 2014 - Dec 31 2015

United States

Computational Sci. Analyst I :: Simons Center for Quantitative Biology

Max F Perutz Laboratories GmbH Jan 01 2013 - Dec 28 2014

Austria

Post Doc :: Center for Integrative Bioinformatics Vienna

Max F Perutz Laboratories GmbH

Austria

PhD student :: Cibiv

European Molecular Biology Laboratory

Germany

Diploma student

Publications

Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K McKenzie, Nathan D Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A Eberle, Melissa Gymrek, Mark J P Chaisson, Justin M Zook, Fritz J Sedlazeck
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nature biotechnology (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J Treangen, Fritz J Sedlazeck
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nature communications 15 (1) (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J Treangen, Fritz J Sedlazeck
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nature communications 15 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Daniel Paiva Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck
Unveiling microbial diversity: harnessing long-read sequencing technology. Nature methods 21 (6) (2024)
Sairam Behera, Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle, Arun Visvanath, Gavin Parnaby, Cooper Roddey, Vitor Onuchic, Daniel L Cameron, Adam C English, Shyamal Mehtalia, James Han, Rami Mehio, Fritz J Sedlazeck
Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv : the preprint server for biology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Medhat Mahmoud, Y Huang, K Garimella, Peter A Audano, W Wan, N Prasad, Robert E Handsaker, S Hall, A Pionzio, Michael C Schatz, Michael E Talkowski, Evan E Eichler, Shawn E Levy, Fritz J Sedlazeck
Utility of long-read sequencing for All of Us. Nature communications 15 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, Raphael J Gibbs, Androo Markham, Michael A Nalls, Rupesh K Kesharwani, Fritz J Sedlazeck, Kimberley J Billingsley, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Profiling complex repeat expansions in RFC1 in Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Medhat Mahmoud, Y Huang, K Garimella, Peter A Audano, W Wan, N Prasad, Robert E Handsaker, S Hall, A Pionzio, Michael C Schatz, Michael E Talkowski, Evan E Eichler, Shawn E Levy, Fritz J Sedlazeck
Utility of long-read sequencing for All of Us. Nature communications 15 (1) (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Wolfram Höps, Tobias Rausch, Michael Jendrusch, null null, Jan O Korbel, Fritz J Sedlazeck
Impact and characterization of serial structural variations across humans and great apes. Nature communications 15 (1) (2024)
Medhat Mahmoud, Y Huang, K Garimella, Peter A Audano, W Wan, N Prasad, Robert E Handsaker, S Hall, A Pionzio, Michael C Schatz, Michael E Talkowski, Evan E Eichler, Shawn E Levy, Fritz J Sedlazeck
Utility of long-read sequencing for All of Us. Nature communications 15 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K McKenzie, Nathan D Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A Eberle, Melissa Gymrek, Mark J P Chaisson, Justin M Zook, Fritz J Sedlazeck
Analysis and benchmarking of small and large genomic variants across tandem repeats. Nature biotechnology (2024)
Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales
De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research. Genome biology and evolution 16 (5) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Luis F Paulin, Jeremy Fan, Kieran O'Neill, Erin D Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck
The benefit of a complete reference genome for cancer structural variant analysis. medRxiv : the preprint server for health sciences (2024)
Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales
De novo genome assembly for the coppery titi monkey (Plecturocebus cupreus) - an emerging non-human primate model for behavioral research. Genome biology and evolution (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Perez-Galey Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip Andrew Richmond, Wouter De Coster, Nathan D Olson, Andrea Guarracino, Qiuhui Li, Angela L Miller, Joy Goffena, Zachery Anderson, Sophie Hr Storz, Sydney A Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E Clarke, Anna O Basile, André Corvelo, Catherine E Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, null null, null null, null null, W Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik P Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, Michael C Zody, Matthew William Loose, Miten Jain, Evan E Eichler, Danny E Miller
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv : the preprint server for health sciences (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini N Jhangiani, Harsha Doddapaneni, Qingchang Meng, Tina Han, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Hua Shen, Jianhong Hu, Yi Han, Casey Riegler, Ginger A Metcalf, Geoff Henno, Ivan K Chinn, Michael A Eberle, Sarah Kingan, Tim Farinholt, Claudia M B Carvalho, Richard A Gibbs, Zev N Kronenberg, Donna Muzny, Fritz J Sedlazeck
Closing the gap: Solving complex medically relevant genes at scale. medRxiv : the preprint server for health sciences (2024)
Pilar Alvarez Jerez, Kensuke Daida, Abigail Miano-Burkhardt, Hirotaka Iwaki, Laksh Malik, Guillaume Cogan, Mary B Makarious, Roisin Sullivan, Jana Vandrovcova, Jinhui Ding, Raphael J Gibbs, Androo Markham, Michael A Nalls, Rupesh K Kesharwani, Fritz J Sedlazeck, Kimberley J Billingsley, John Hardy, Henry Houlden, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Profiling complex repeat expansions in RFC1 in Parkinson's disease. NPJ Parkinson's disease 10 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J Treangen, Fritz J Sedlazeck
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nature communications 15 (1) (2024)
Luis F Paulin, Jeremy Fan, Kieran O'Neill, Erin D Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck
The benefit of a complete reference genome for cancer structural variant analysis. medRxiv : the preprint server for health sciences (2024)
Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini Jhangiani, Harsha Doddapaneni, Qingchang Meng, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Tina Han, Han Yi, Casey Riegler, Ginger A Metcalf, Chinn K Ivan, Michael A Eberle, Sarah Kingan, Tim Farinholt, Carvalho Claudia, Richard A Gibbs, Zev N Kronenberg, Donna Muzny, Fritz J Sedlazeck
Closing the gap: Solving complex medically relevant genes at scale. medRxiv : the preprint server for health sciences (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Jonas A Gustafson, Sophia B Gibson, Nikhita Damaraju, Miranda Perez-Galey Zalusky, Kendra Hoekzema, David Twesigomwe, Lei Yang, Anthony A Snead, Phillip Andrew Richmond, Wouter De Coster, Nathan D Olson, Andrea Guarracino, Qiuhui Li, Angela L Miller, Joy Goffena, Zachery Anderson, Sophie Hr Storz, Sydney A Ward, Maisha Sinha, Claudia Gonzaga-Jauregui, Wayne E Clarke, Anna O Basile, André Corvelo, Catherine E Reeves, Adrienne Helland, Rajeeva Lochan Musunuri, Mahler Revsine, Karynne E Patterson, Cate R Paschal, Christina Zakarian, Sara Goodwin, Tanner D Jensen, Esther Robb, null null, null null, null null, W Richard McCombie, Fritz J Sedlazeck, Justin M Zook, Stephen B Montgomery, Erik P Garrison, Mikhail Kolmogorov, Michael C Schatz, Richard N McLaughlin, Harriet Dashnow, Michael C Zody, Matthew William Loose, Miten Jain, Evan E Eichler, Danny E Miller
Nanopore sequencing of 1000 Genomes Project samples to build a comprehensive catalog of human genetic variation. medRxiv : the preprint server for health sciences (2024)
Medhat Mahmoud, Y Huang, K Garimella, Peter A Audano, W Wan, N Prasad, Robert E Handsaker, S Hall, A Pionzio, Michael C Schatz, Michael E Talkowski, Evan E Eichler, Shawn E Levy, Fritz J Sedlazeck
Utility of long-read sequencing for All of Us. Nature communications 15 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales
De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research. Genome biology and evolution 16 (5) (2024)
Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales
De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research. Genome biology and evolution 16 (5) (2024)
Pilar Alvarez Jerez, Kensuke Daida, Francis P Grenn, Laksh Malik, Abigail Miano-Burkhardt, Mary B Makarious, Jinhui Ding, Raphael J Gibbs, Anni Moore, Xylena Reed, Michael A Nalls, Syed I Shah, Medhat Mahmoud, Fritz J Sedlazeck, Egor Dolzhenko, Morgan Park, Hirotaka Iwaki, Kimberley J Billingsley, Mina Ryten, Cornelis Blauwendraat, Andrew B Singleton, Kimberley J Billingsley
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing. NPJ Parkinson's disease 10 (1) (2024)
Medhat Mahmoud, Y Huang, K Garimella, Peter A Audano, W Wan, N Prasad, Robert E Handsaker, S Hall, A Pionzio, Michael C Schatz, Michael E Talkowski, Evan E Eichler, Shawn E Levy, Fritz J Sedlazeck
Utility of long-read sequencing for All of Us. Nature communications 15 (1) (2024)
Yilei Fu, Sergey Aganezov, Medhat Mahmoud, John Beaulaurier, Sissel Juul, Todd J Treangen, Fritz J Sedlazeck
MethPhaser: methylation-based long-read haplotype phasing of human genomes. Nature communications 15 (1) (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Egor Dolzhenko, Adam English, Harriet Dashnow, Guilherme De Sena Brandine, Tom Mokveld, William J Rowell, Caitlin Karniski, Zev Kronenberg, Matt C Danzi, Warren A Cheung, Chengpeng Bi, Emily Farrow, Aaron Wenger, Khi Pin Chua, Verónica Martínez-Cerdeño, Trevor D Bartley, Peng Jin, David L Nelson, Stephan Zuchner, Tomi Pastinen, Aaron R Quinlan, Fritz J Sedlazeck, Michael A Eberle
Characterization and visualization of tandem repeats at genome scale. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Luis F Paulin, Jeremy Fan, Kieran O'Neill, Erin D Pleasance, Vanessa L Porter, Steven J M Jones, Fritz J Sedlazeck
The benefit of a complete reference genome for cancer structural variant analysis. medRxiv : the preprint server for health sciences (2024)
Daniel Paiva Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck
Unveiling microbial diversity: harnessing long-read sequencing technology. Nature methods 21 (6) (2024)
Sairam Behera, Severine Catreux, Massimiliano Rossi, Sean Truong, Zhuoyi Huang, Michael Ruehle, Arun Visvanath, Gavin Parnaby, Cooper Roddey, Vitor Onuchic, Daniel L Cameron, Adam C English, Shyamal Mehtalia, James Han, Rami Mehio, Fritz J Sedlazeck
Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv : the preprint server for biology (2024)
Daniel Paiva Agustinho, Yilei Fu, Vipin K Menon, Ginger A Metcalf, Todd J Treangen, Fritz J Sedlazeck
Unveiling microbial diversity: harnessing long-read sequencing technology. Nature methods (2024)
Moritz Smolka, Luis F Paulin, Christopher M Grochowski, Dominic W Horner, Medhat Mahmoud, Sairam Behera, Ester Kalef-Ezra, Mira Gandhi, Karl Hong, Davut Pehlivan, Sonja W Scholz, Cláudia M B Carvalho, Christos Proukakis, Fritz J Sedlazeck
Detection of mosaic and population-level structural variants with Sniffles2. Nature biotechnology (2024)
Susanne P Pfeifer, Alexander Baxter, Logan E Savidge, Fritz J Sedlazeck, Karen L Bales
De Novo Genome Assembly for the Coppery Titi Monkey (Plecturocebus cupreus): An Emerging Nonhuman Primate Model for Behavioral Research. Genome biology and evolution 16 (5) (2024)
Medhat Mahmoud, John Harting, Holly Corbitt, Xiao Chen, Shalini Jhangiani, Harsha Doddapaneni, Qingchang Meng, Christine Lambert, Siyuan Zhang, Primo Baybayan, Geoff Henno, Tina Han, Han Yi, Casey Riegler, Ginger A Metcalf, Chinn K Ivan, Michael A Eberle, Sarah Kingan, Tim Farinholt, Carvalho Claudia, Richard A Gibbs, Zev N Kronenberg, Donna Muzny, Fritz J Sedlazeck
Closing the gap: Solving complex medically relevant genes at scale. medRxiv : the preprint server for health sciences (2024)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
David Viktor Dylus, Adrian M Altenhoff, Sina Majidian, Fritz J Sedlazeck, Christophe Dessimoz
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nature biotechnology (2023)
Keiko Akagi, David E Symer, Medhat Mahmoud, Bo Jiang, Sara Goodwin, Darawalee Wangsa, Zhengke Li, Weihong Xiao, Joe Dan Dunn, Thomas Ried, Kevin R Coombes, Fritz J Sedlazeck, Maura L Gillison
Intratumoral heterogeneity and clonal evolution induced by HPV integration. Cancer discovery (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Arang Rhie, Sergey Nurk, Monika Cechova, Savannah J Hoyt, Dylan J Taylor, Nicolas Altemose, Paul W Hook, Sergey Koren, Mikko Rautiainen, Ivan A Alexandrov, Jamie Allen, Mobin Asri, Andrey V Bzikadze, Nae-Chyun Chen, Chen-Shan Chin, Mark E Diekhans, Paul Flicek, Giulio Formenti, Arkarachai Fungtammasan, Carlos Garcia Giron, Erik P Garrison, Ariel Gershman, Jennifer L Gerton, Patrick G S Grady, Andrea Guarracino, Leanne Haggerty, Reza Halabian, Nancy F Hansen, Robert Harris, Gabrielle A Hartley, William T Harvey, Marina Haukness, Jakob Heinz, Thibaut Hourlier, Robert M Hubley, Sarah E Hunt, Stephen Hwang, Miten Jain, Rupesh K Kesharwani, Alexandra P Lewis, Heng Li, Glennis A Logsdon, Julian K Lucas, Wojciech Makalowski, Christopher Markovic, Fergal J Martin, Ann M Mc Cartney, Rajiv C McCoy, Jennifer McDaniel, Brandy M McNulty, Paul Medvedev, Alla Mikheenko, Katherine M Munson, Terence D Murphy, Hugh E Olsen, Nathan D Olson, Luis F Paulin, David Porubsky, Tamara A Potapova, Fedor D Ryabov, Steven L Salzberg, Michael E G Sauria, Fritz J Sedlazeck, Kishwar Shafin, Valery A Shepelev, Alaina Shumate, Jessica M Storer, Likhitha Surapaneni, Angela M Taravella Oill, Françoise Thibaud-Nissen, Winston Timp, Marta Tomaszkiewicz, Mitchell R Vollger, Brian P Walenz, Allison C Watwood, Matthias H Weissensteiner, Aaron M Wenger, Melissa A Wilson, Samantha Zarate, Yiming Zhu, Justin M Zook, Evan E Eichler, Rachel J O'Neill, Michael C Schatz, Karen H Miga, Kateryna D Makova, Adam M Phillippy
The complete sequence of a human Y chromosome. Nature (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Sairam Behera, Jonathan R Belyeu, Xiao Chen, Luis F Paulin, N Q H Nguyen, E Newman, Medhat Mahmoud, V K Menon, Q Qi, P Joshi, S Marcovina, Massimiliano Rossi, E Roller, J Han, Vitor Onuchic, C L Avery, C M Ballantyne, C J Rodriguez, Robert C Kaplan, D M Muzny, G A Metcalf, R Gibbs, Bing Yu, E Boerwinkle, Michael A Eberle, Fritz J Sedlazeck
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv : the preprint server for biology (2023)
David Viktor Dylus, Adrian M Altenhoff, Sina Majidian, Fritz J Sedlazeck, Christophe Dessimoz
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nature biotechnology (2023)
Chen-Shan Chin, Sairam Behera, Asif Khalak, Fritz J Sedlazeck, Peter H Sudmant, Justin Wagner, Justin M Zook
Multiscale analysis of pangenomes enables improved representation of genomic diversity for repetitive and clinically relevant genes. Nature methods (2023)
Sairam Behera, Jonathan R Belyeu, Xiao Chen, Luis F Paulin, N Q H Nguyen, E Newman, Medhat Mahmoud, V K Menon, Q Qi, P Joshi, S Marcovina, Massimiliano Rossi, E Roller, J Han, Vitor Onuchic, C L Avery, C M Ballantyne, C J Rodriguez, Robert C Kaplan, D M Muzny, G A Metcalf, R Gibbs, Bing Yu, E Boerwinkle, Michael A Eberle, Fritz J Sedlazeck
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv : the preprint server for biology (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
David Viktor Dylus, Adrian M Altenhoff, Sina Majidian, Fritz J Sedlazeck, Christophe Dessimoz
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nature biotechnology (2023)
Nae-Chyun Chen, Luis F Paulin, Fritz J Sedlazeck, Sergey Koren, Adam M Phillippy, Ben Langmead
Improved sequence mapping using a complete reference genome and lift-over. Nature methods (2023)
Christopher M Grochowski, Jesse D Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G Mehaffey, KyungHee Park, Wolfram Höps, Eva Benito-Garagorri, Patrick Hasenfeld, Jan O Korbel, Medhat Mahmoud, Luis F Paulin, Shalini N Jhangiani, Donna M Muzny, Jawid M Fatih, Richard A Gibbs, Matthew Pendleton, Eoghan Harrington, Sissel Juul, Anna Lindstrand, Fritz J Sedlazeck, Davut Pehlivan, James R. Lupski, Claudia M B Carvalho
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structures. bioRxiv : the preprint server for biology (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Mikhail Kolmogorov, Kimberley J Billingsley, Mira Mastoras, Melissa Meredith, Jean Monlong, Ryan Lorig-Roach, Mobin Asri, Pilar Alvarez Jerez, Laksh Malik, Ramita Dewan, Xylena Reed, Rylee M Genner, Kensuke Daida, Sairam Behera, Kishwar Shafin, Trevor Pesout, Jeshuwin Prabakaran, Paolo Carnevali, Jianzhi Yang, Arang Rhie, Sonja W Scholz, Bryan J Traynor, Karen H Miga, Miten Jain, Winston Timp, Adam M Phillippy, Mark J P Chaisson, Fritz J Sedlazeck, Cornelis Blauwendraat, Benedict Paten
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation. Nature methods (2023)
David Viktor Dylus, Adrian M Altenhoff, Sina Majidian, Fritz J Sedlazeck, Christophe Dessimoz
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nature biotechnology (2023)
Nathan D Olson, Justin Wagner, Nathan Dwarshuis, Karen H Miga, Fritz J Sedlazeck, Marc Salit, Justin M Zook
Variant calling and benchmarking in an era of complete human genome sequences. Nature reviews. Genetics (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A (2023)
David Viktor Dylus, Adrian M Altenhoff, Sina Majidian, Fritz J Sedlazeck, Christophe Dessimoz
Inference of phylogenetic trees directly from raw sequencing reads using Read2Tree. Nature biotechnology (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Adam C English, Egor Dolzhenko, Helyaneh Ziaei Jam, Sean K McKenzie, Nathan D Olson, Wouter De Coster, Jonghun Park, Bida Gu, Justin Wagner, Michael A Eberle, Melissa Gymrek, Mark J P Chaisson, Justin M Zook, Fritz J Sedlazeck
Benchmarking of small and large variants across tandem repeats. bioRxiv : the preprint server for biology (2023)
Jesse Farek, Daniel Hughes, William J Salerno, Yiming Zhu, Aishwarya Pisupati, Adam Mansfield, Olga Krasheninina, Adam C English, Ginger A Metcalf, Eric Boerwinkle, Donna M Muzny, Richard A Gibbs, Ziad M Khan, Fritz J Sedlazeck
xAtlas: scalable small variant calling across heterogeneous next-generation sequencing experiments. GigaScience 12 (2023)
Ester Kalef-Ezra, Zeliha Gözde Turan, Diego Pérez-Rodríguez, Ida Bomann, Sairam Behera, Caoimhe Morley, Sonja W Scholz, Zane T Jaunmuktane, Jonas Demeulemeester, Fritz J Sedlazeck, Christos Proukakis
Single-cell somatic copy number variants in brain using different amplification methods and reference genomes. bioRxiv : the preprint server for biology (2023)
Goo Jun, Adam C English, Ginger A Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan Pankratz, Vipin K Menon, William J Salerno, Olga Krasheninina, Albert Vernon Smith, John A Lane, Tom Blackwell, Hyun-Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, Kathleen M Beutel, Joshua C Bis, John E Blangero, Donald W Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael H Cho, Joanne E Curran, Myriam Fornage, Barry I Freedman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert C Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney G Montgomery, Take Naseri, S Mehdi Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura M Raffield, Aakrosh Ratan, Susan Redline, Sefuiva Reupena, Jerome I Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin K Silverman, Jennifer A Smith, Adrienne M Stilp, Kent D Taylor, Marilyn J Telen, Scott T Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica A Lasky-Su, Marie Claude Gingras, Susan K Dutcher, Evan E Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine A Viaud-Martinez, Deborah A Nickerson, null null, James Luo, Alexander P Reiner, Richard A Gibbs, Eric Boerwinkle, Goncalo Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. bioRxiv : the preprint server for biology (2023)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Goo Jun, Adam English, Ginger Metcalf, Jianzhi Yang, Mark J P Chaisson, Nathan D Pankratz, Vipin K Menon, William Salerno, Olga Krasheninina, Albert Vernon Smith, John Lane, Thomas Blackwell, Hyun Min Kang, Sejal Salvi, Qingchang Meng, Hua Shen, Divya Pasham, Sravya Bhamidipati, Kavya Kottapalli, Donna K Arnett, Allison Elizabeth Ashley-Koch, Paul L Auer, KAthleen Beutel, Joshua C Bis, John E Blangero, Donald Bowden, Jennifer A Brody, Brian E Cade, Yii-Der Ida Chen, Michael Cho, Joanne E Curran, Myriam Fornage, Barry Frredman, Tasha Fingerlin, Bruce D Gelb, Lifang Hou, Yi-Jen Hung, John P Kane, Robert Kaplan, Wonji Kim, Ruth J F Loos, Gregory M Marcus, Rasika A Mathias, Stephen T McGarvey, Courtney Montgomery, Take Naseri, Seyed Nouraie, Michael H Preuss, Nicholette D D Allred, Patricia A Peyser, Laura Raffield, Aakrosh Ratan, Susan Redline, Muagututia Reupena, Jerome Rotter, Stephen S Rich, Michiel Rienstra, Ingo Ruczinski, Vijay G Sankaran, David A Schwartz, Christine E Seidman, Jonathan G Seidman, Edwin Silverman, Jennifer A Smith, Adrienne M Stilp, Kent Taylor, Marilyn Telen, Scott Weiss, L Keoki Williams, Baojun Wu, Lisa R Yanek, Yingze Zhang, Jessica Lasky-Su, Marie-Claude Gingras, Susan K Dutcher, Evan Eichler, Stacey Gabriel, Soren Germer, Ryan Kim, Karine Martinez, Deborah Nickerson, James Luo, Alexander P Reiner, Richard Gibbs, Eric Boerwinkle, Goncaol Abecasis, Fritz J Sedlazeck
Structural variation across 138,134 samples in the TOPMed consortium. Research square (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Cláudia M B Carvalho, Richard A Gibbs, James R. Lupski
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A 191 (3) (2023)
Sairam Behera, Jonathon LeFaive, Peter Orchard, Medhat Mahmoud, Luis F Paulin, Jesse Farek, Daniela C Soto, Stephen C J Parker, Albert V Smith, Megan Y Dennis, Justin M Zook, Fritz J Sedlazeck
FixItFelix: improving genomic analysis by fixing reference errors. Genome biology 24 (1) (2023)
Sairam Behera, Jonathan R Belyeu, Xiao Chen, Luis F Paulin, N Q H Nguyen, E Newman, Medhat Mahmoud, V K Menon, Q Qi, P Joshi, S Marcovina, Massimiliano Rossi, E Roller, J Han, Vitor Onuchic, C L Avery, C M Ballantyne, C J Rodriguez, Robert C Kaplan, D M Muzny, G A Metcalf, R Gibbs, Bing Yu, E Boerwinkle, Michael A Eberle, Fritz J Sedlazeck
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk. bioRxiv : the preprint server for biology (2023)

Fritz J Sedlazeck.css-eqlu8i{font-size:small;padding-left:4px;} (Fritz Sedlazeck, F J Sedlazeck)

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Fritz J Sedlazeck (Fritz Sedlazeck, F J Sedlazeck)