Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D FarwellLayla ShahmirzadiDima El-KhechenZöe PowisElizabeth C ChaoBrigette Tippin DavisRuth M BaxterWenqi ZengCameron MroskeMelissa C ParraStephanie K GandomiIra LuXiang LiHong LuHsiao-Mei LuDavid SalvadorDavid RubleMonica LaoSoren FischbachJennifer WenShela LeeAaron ElliottCharles L M DunlopSha TangPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2014)
Overall, we present results from the largest clinical cohort of diagnostic exome sequencing cases to date. These data demonstrate the utility of family-based exome sequencing and analysis to obtain the highest reported detection rate in an unselected clinical cohort, illustrating the utility of diagnostic exome sequencing as a transformative technology for the molecular diagnosis of genetic disease.