Factors influencing success of clinical genome sequencing across a broad spectrum of disorders


To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies… (More)
DOI: 10.1038/ng.3304

Blog articles referencing this paper