Whole-genome variant detection in long-read sequencing data from ultra-low input patient samples.

ABSTRACT: Long-read sequencing provides a more complete view of the genome than short-read sequencing, with advantages in the detection of structural variants, tandem repeats, and small variants (single nucleotide variants and insertions and deletions) in difficult-to-map regions. One limitation of long-read sequencing has been high input DNA requirements, with several micrograms required per sample. Here, we evaluated two methods of amplification-based long-read, whole-genome sequencing: Ultra-Low Input HiFi (ULI-HiFi) sequencing and droplet multiple displacement amplification (dMDA) sequencing. When the accuracy of these methods were benchmarked with a reference set of variant calls from the Genome in a Bottle consortium (NA24385), we observed high precision and recall of single nucleotide variant

SUBMITTER: Wang K 

PROVIDER: S-EPMC12330473 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature