Structural and Non-Coding Variants Increase the Diagnostic Yield of Clinical Whole Genome Sequencing for Rare Diseases

ABSTRACT: Although whole genome sequencing is increasingly used for the diagnosis of patients with rare disease, diagnostic yields often disappointingly low. We undertook WGS on a cohort of 122 unrelated RD patients and applied a bioinformatics pipeline that would allow an in-depth interrogation of the genome to provide a comprehensive analysis of all variant types. Our results demonstrate that structural, splice-site and intronic variants make a substantial contribution to diagnostic yield and therefore that comprehensive analysis of the entire genome is essential to maximise the value of clinical WGS.

PROVIDER: EGAS00001007575 | EGA |

REPOSITORIES: EGA