Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.

Hildegard Nikki HallDavid ParryMihail HalachevKathleen A WilliamsonKevin DonnellyJose Campos ParadaShipra BhatiaJeffrey JosephSimon HoldenTrine E PrescottPierre BitounEdwin P KirkRuth Newbury-EcobKatherine LachlanJuan BernarVeronica van HeyningenDavid R FitzPatrickAlison Meynert

Published in: Journal of medical genetics (2023)

Whole genome sequencing proves to be an effective diagnostic test in most individuals with previously unexplained aniridia.

Keyphrases

genome wide
copy number
single molecule