Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.

ABSTRACT: De novo mutations (DNMs) play an important role in severe genetic disorders that reduce fitness. To better understand their role in disease, it is important to determine the parent-of-origin and timing of mutational events that give rise to these mutations, especially in sex-specific developmental disorders such as male infertility. However, currently available short-read sequencing approaches are not ideally suited for phasing, as this requires long continuous DNA strands that span both the DNM and one or more informative single-nucleotide polymorphisms. To overcome these challenges, we optimized and implemented a multiplexed long-read sequencing approach using Oxford Nanopore technologies MinION platform. We focused on improving target amplification, integrating long-read sequenced data

SUBMITTER: Holt GS 

PROVIDER: S-EPMC9826063 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature