Steven M Harrison (Steven Harrison)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 14

Top Topics

Machine Learning

Dna Methylation

Clinical Practice

Top Venues

medRxiv : the preprint server for health sciences

NPJ genomic medicine

Genome medicine

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

Publications

Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Sarah L Stenton, Vikas Pejaver, Timothy Bergquist, Leslie G Biesecker, Alicia B Byrne, Emily A W Nadeau, Marc S Greenblatt, Steven M Harrison, Sean V Tavtigian, Predrag Radivojac, Steven E Brenner, Anne H O'Donnell-Luria, null null
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations. medRxiv : the preprint server for health sciences (2024)
Steven M Harrison, Christina A Austin-Tse, Serra Kim, Matthew Lebo, Annette Leon, David Murdock, Aparna Radhakrishnan, Brian H Shirts, Marcie Steeves, Eric Venner, Richard A Gibbs, Gail P Jarvik, Michael J Bamshad
Harmonizing variant classification for return of results in the All of Us Research Program. Human mutation 43 (8) (2021)
Christian R Marshall, Shimul Chowdhury, Ryan J Taft, Matthew S Lebo, Jillian G Buchan, Steven M Harrison, Ross Rowsey, Eric W Klee, Pengfei Liu, Elizabeth A Worthey, Vaidehi Jobanputra, David P Dimmock, Hutton M Kearney, David Bick, Shashikant Kulkarni, Stacie L Taylor, John W Belmont, Dimitri J Stavropoulos, Niall J Lennon, null null
Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease. NPJ genomic medicine 5 (2020)
Rajarshi Ghosh, Steven M Harrison, Michael J Bamshad, Sharon E Plon, Barbara B Biesecker, null null
Updated recommendation for the benign stand-alone ACMG/AMP criterion. Human mutation 39 (11) (2019)
Steven M Harrison, Heidi L Rehm
Is 'likely pathogenic' really 90% likely? Reclassification data in ClinVar. Genome medicine 11 (1) (2019)
E Andres Rivera-Munoz, Laura V Milko, Steven M Harrison, Danielle R Azzariti, C Lisa Kurtz, Kristy Lee, Jessica L Mester, Meredith A Weaver, Erin Currey, William Craigen, Charis Eng, Birgit Funke, Madhuri Hegde, Ray E Hershberger, Rong Mao, Robert D Steiner, Lisa M Vincent, Christa L Martin, Sharon E Plon, Erin Ramos, Michael J Bamshad, Michael Watson, Jonathan S Berg
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation. Human mutation 39 (11) (2019)
Juliann M Savatt, Danielle R Azzariti, William Andrew Faucett, Steven M Harrison, Jennifer Hart, Brandi Kattman, Melissa J Landrum, David H Ledbetter, Vanessa Rangel Miller, Emily Palen, Michael J Bamshad, Jud Rhode, Stefanie Turner, Jo Anne Vidal, Karen E Wain, Erin Rooney Riggs, Christa Lese Martin
ClinGen's GenomeConnect registry enables patient-centered data sharing. Human mutation 39 (11) (2019)
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das, Joshua L Deignan, Kathryn B Garber, John Garcia, Olga Jarinova, Amy E Knight Johnson, Juha W Koskenvuo, Hane Lee, Rong Mao, Rebecca Mar-Heyming, Andrew S McFaddin, Krista Moyer, Narasimhan Nagan, Stefan Rentas, Avni B Santani, Eija H Seppälä, Brian H Shirts, Timothy Tidwell, Scott Topper, Lisa M Vincent, Kathy Vinette, Michael J Bamshad, null null
Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach. Human mutation 39 (11) (2019)
Melissa S Cline, Rachel G Liao, Michael T Parsons, Benedict Paten, Faisal S Alquaddoomi, Antonis Antoniou, Samantha Baxter, Larry Brody, Robert Cook-Deegan, Amy Coffin, Fergus J Couch, Brian Craft, Robert Currie, Chloe C Dlott, Lena Dolman, Johan T den Dunnen, Stephanie O M Dyke, Susan M Domchek, Douglas Easton, Zachary Fischmann, William D Foulkes, Judy Garber, David Goldgar, Mary J Goldman, Peter Goodhand, Steven M Harrison, David Haussler, Kazuto Kato, Bartha Knoppers, Charles Markello, Robert Nussbaum, Kenneth Offit, Sharon E Plon, Jem Rashbass, Michael J Bamshad, Mark Robson, Wendy S Rubinstein, Dominique Stoppa-Lyonnet, Sean V Tavtigian, Adrian Thorogood, Can Zhang, Marc Zimmermann, null null, John Burn, Stephen J Chanock, Gunnar Rätsch, Amanda B Spurdle
BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2. PLoS genetics 14 (12) (2018)
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea M Oza, Michael J Bamshad, Leslie G Biesecker, Steven M Harrison, null null
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Human mutation 39 (11) (2018)
Steven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, Tina Pesaran, Danielle R Azzariti, Sherri Bale, Elizabeth C Chao, Soma Das, Lisa Vincent, Michael J Bamshad
Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar. Genetics in medicine : official journal of the American College of Medical Genetics 19 (10) (2017)