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

ConclusionsGenome sequencing is increasingly being considered as a first-line genetic test in routine clinical settings and can make a substantial contribution to rapidly identifying a causal aetiology for many patients, shortening their diagnostic odyssey. We have demonstrated that structural, splice site and intronic variants make a significant contribution to diagnostic yield and that comprehensive analysis of the entire genome is essential to maximise the value of clinical genome sequencing.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research