Genome Sequencing for Diagnosing Rare Diseases.
Monica Hsiung WojcikGabrielle LemireEva BergerMaha S ZakiMariel WissmannWathone WinSusan M WhiteBen WeisburdDagmar WieczorekLeigh B WaddellJeffrey M VerboonGrace E VanNoyAna TöpfTiong Yang TanSteffen SyrbeVincent StrehlowVolker StraubSarah L StentonHana SnowMoriel Singer-BerkJosh SilverShirlee ShrilEleanor G SeabyRonen SchneiderVijay G SankaranAlba Sanchis-JuanKathryn A RussellKarit ReinsonGianina RavenscroftMaximilian RadtkeDenny PoppTilman PolsterKonrad PlatzerEric A PierceEmily M PlaceSander PajusaluLynn PaisKatrin ÕunapIkeoluwa Osei-OwusuHenry OppermanVolkan OkurKaisa Teele OjaMelanie O'LearyEmily O'HeirChantal F MorelAndreas MerkenschlagerRhett G MarchantBrian E MangilogJill A MaddenDaniel MacArthurAlysia LovgrenJordan P Lerner-EllisJasmine LinNigel LaingFriedhelm HildebrandtJulia HentschelEmily GroopmanJulia GoodrichJoseph G GleesonRoula GhaouiCasie A GenettiJanina Gburek-AugustatHanna T GazdaVijay S GaneshMythily GanapathiLyndon GallacherJack M FuEmily EvangelistaEleina EnglandSandra DonkervoortStephanie DiTroiaSandra T CooperWendy K ChungJohn ChristodoulouKatherine R ChaoLiam D CatoKinga M BujakowskaSamantha J BryenHarrison BrandCarsten G BönnemannAlan H BeggsSamantha M BaxterTobias BartolomaeusPankaj B AgrawalMichael TalkowskiChristina Austin-TseRami Abou JamraMichael J BamshadAnne O'Donnell-LuriaPublished in: The New England journal of medicine (2024)
The diagnostic yield of genome sequencing in a large, diverse research cohort and in a small clinical cohort of persons who had previously undergone genetic testing was approximately 8% and included several types of pathogenic variation that had not previously been detected by means of exome sequencing or other techniques. (Funded by the National Human Genome Research Institute and others.).