Improvement of large copy number variant detection by whole genome nanopore sequencing.

ABSTRACT:

Introduction

Whole-genome sequencing using nanopore technologies can uncover structural variants, which are DNA rearrangements larger than 50 base pairs. Nanopore technologies can also characterize their boundaries with single-base accuracy, owing to the kilobase-long reads that encompass either full variants or their junctions. Other methods, such as next-generation short read sequencing or PCR assays, are limited in their capabilities to detect or characterize structural variants. However, the existing software for nanopore sequencing data analysis still reports incomplete variant sets, which also contain erroneous calls, a considerable obstacle for the molecular diagnosis or accurate genotyping of populations.

Methods

We compared multiple factors affecting variant calling

SUBMITTER: Cuenca-Guardiola J 

PROVIDER: S-EPMC10403694 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature