Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data.
Xiao ChenAlba Sanchis-JuanCourtney E FrenchAndrew J ConnellIsabelle DelonZoya KingsburyAditi ChawlaAaron L HalpernRyan J Taftnull nullDavid R BentleyMatthew E R ButchbachF Lucy RaymondMichael A EberlePublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
This SMN copy-number caller can be used to identify both carrier and affected status of SMA, enabling SMA testing to be offered as a comprehensive test in neonatal care and an accurate carrier screening tool in GS sequencing projects.