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Article

Comprehensive de novo mutation discovery with HiFi long-read sequencing.

Genome medicine - 8 May 2023

Kucuk Erdi, van der Sanden Bart P G H, O'Gorman Luke, Kwint Michael, Derks Ronny, Wenger Aaron M, Lambert Christine, Chakraborty Shreyasee, Baybayan Primo, Rowell William J, Brunner Han G, Vissers Lisenka E L M, Hoischen Alexander, Gilissen Christian

Abstract excerpt

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 makes LRS also suited for detecting small variation. Here we evaluate the ability of HiFi reads to detect de novo mutations...

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PMID: 37158973
DOI: 10.1186/s13073-023-01183-6
PMCID: PMC10169305

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