Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization.

Kévin UguenClaire JubinYannis DuffourdClaire BardelValérie MalanJean-Michel DupontLaila El KhattabiNicolas ChatronAntonio VitobelloPierre-Antoine Rollat-FarnierCéline BaulardMarc LelorchAurélie LeducEmilie TisserantFrédéric Tran Mau-ThemVincent DanjeanMarc DelepineMarianne TillVincent MeyerStanislas LyonnetAnne-Laure Mosca-BoidronJulien ThevenonLaurence Olivier-FaivreChristel Thauvin-RobinetCaroline Schluth-BolardAnne BolandRobert OlasoPatrick CallierSerge RomanaJean-François DeleuzeDamien Sanlaville

Published in: Molecular genetics & genomic medicine (2020)

In conclusion, regarding the results of this study, 10X Genomics solution did not improve the detection and characterization of SV.

Keyphrases

single cell
loop mediated isothermal amplification
single molecule
label free
genome wide
dna methylation