Experimental Eye Research · 2019 · 51 citations · 47 references
MedicineOphthalmologyVision ScienceOcular DiseaseVisual DisordersMacular DisordersPigmentary DisordersRetinal DegenerationRetinal DiseaseRetinal DisordersRetinal Pigment EpitheliumPigmentary RetinopathyPrimate OphthalmologyRetinal Ganglion Cell DisordersUveal Pigmentation Disorders
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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
Pablo Cingolani, Adrian E. Platts, Le Lily Wang et al. · Fly · 2012 · 12.7K citations · Full text
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher, Daniela Witten, Preti Jain et al. · Nature Genetics · 2014 · 6.6K citations · Full text