Comprehensive de novo mutation discovery with HiFi long-read sequencing

Abstract Background Long-read sequencing (LRS) techniques have been very successful in identifying structural variants (SVs). However, the high error rate of LRS made the detection of small variants (substitutions and short indels < 20 bp) more challenging. The introduction of PacBio HiFi sequencing...

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Wedi'i Gadw mewn:

Manylion Llyfryddiaeth
Prif Awduron:	Erdi Kucuk, Bart P. G. H. van der Sanden, Luke O’Gorman, Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E. L. M. Vissers, Alexander Hoischen, Christian Gilissen
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2023-05-01
Cyfres:	Genome Medicine
Pynciau:	Long-read sequencing HiFi reads De novo mutations
Mynediad Ar-lein:	https://doi.org/10.1186/s13073-023-01183-6
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Comprehensive de novo mutation discovery with HiFi long-read sequencing

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