Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Erdi KucukBart P G H van der SandenLuke O'GormanMichael KwintRonny DerksAaron M WengerChristine LambertShreyasee ChakrabortyPrimo BaybayanWilliam J RowellHan G BrunnerLisenka E L M VissersAlexander HoischenChristian GilissenPublished in: Genome medicine (2023)
HiFi LRS can now produce the most comprehensive variant dataset obtainable by a single technology in a single laboratory, allowing accurate calling of substitutions, indels, STRs and SVs. The accuracy even allows sensitive calling of DNMs on all variant levels, and also allows for phasing, which helps to distinguish true positive from false positive DNMs.