Comprehensive de novo mutation discovery with HiFi long-read sequencing

ConclusionsHiFi 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.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research