Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

ABSTRACT:

Background

Whole genome sequencing is increasingly being used for the diagnosis of patients with rare diseases. However, the diagnostic yields of many studies, particularly those conducted in a healthcare setting, are often disappointingly low, at 25-30%. This is in part because although entire genomes are sequenced, analysis is often confined to in silico gene panels or coding regions of the genome.

Methods

We undertook WGS on a cohort of 122 unrelated rare disease patients and their relatives (300 genomes) who had been pre-screened by gene panels or arrays. Patients were recruited from a broad spectrum of clinical specialties. We applied a bioinformatics pipeline that would allow comprehensive analysis of all variant types. We combined established bioinformatics tools for

SUBMITTER: Pagnamenta AT 

PROVIDER: S-EPMC10636885 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature