Improved structural variant interpretation for hereditary cancer susceptibility using long-read sequencing.

ABSTRACT:

Purpose

Structural variants (SVs) may be an underestimated cause of hereditary cancer syndromes given the current limitations of short-read next-generation sequencing. Here we investigated the utility of long-read sequencing in resolving germline SVs in cancer susceptibility genes detected through short-read genome sequencing.

Methods

Known or suspected deleterious germline SVs were identified using Illumina genome sequencing across a cohort of 669 advanced cancer patients with paired tumor genome and transcriptome sequencing. Candidate SVs were subsequently assessed by Oxford Nanopore long-read sequencing.

Results

Nanopore sequencing confirmed eight simple pathogenic or likely pathogenic SVs, resolving three additional variants whose impact could not be fully elucida

SUBMITTER: Thibodeau ML 

PROVIDER: S-EPMC7605438 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature