Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L StalsMatthew WakelingJúlia BaptistaRichard CaswellAndrew ParrishJulia RankinCarolyn TysoeGaran JonesAdam C GunningHana Lango AllenLisa BradleyAngela F BradyHelena CarleyJenny CarmichaelBruce CastleDeirdre CilliersHelen CoxCharu DeshpandeAbhijit DixitJacqueline EasonFrances ElmslieAndrew E FryAlan FryerMuriel HolderTessa HomfrayEmma KivuvaVictoria McKayRuth Newbury-EcobMichael ParkerRavi SavarirayanClaire SearleNora ShannonDeborah ShearsSarah SmithsonEllen ThomasPeter D TurnpennyVinod VarghesePradeep VasudevanEmma WakelingEmma L BapleSian EllardPublished in: Prenatal diagnosis (2017)
We conclude that exome sequencing of parental samples is a powerful strategy with high clinical utility for the genetic diagnosis of lethal or prenatal-onset recessive disorders. © 2017 The Authors Prenatal Diagnosis published by John Wiley & Sons Ltd.