Multi-disciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.

Malena Daich VarelaJames BellinghamFabiana MottaNeringa JurkuteJamie M EllingfordMathieu QuinodozKathryn OprychMichael NiblockLucas Janeschitz-KrieglKarolina KaminskaFrancesca CancellieriHendrik P N SchollEva LenassiElena SchiffHannah KnightGraeme BlackCarlo RivoltaMichael E CheethamMichel MichaelidesOmar A MahrooAnthony T MooreAndrew R WebsterGavin Arno

Published in: Human molecular genetics (2022)

MDT-led, phenotype driven, non-coding variant re-analysis of GS is effective in identifying missing causative alleles.

Keyphrases

optical coherence tomography
diabetic retinopathy
copy number
palliative care
quality improvement
optic nerve
genome wide
light emitting