Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01
Variant appearance in text: ABCA4: Q859R; rs140281495
Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases.
Human Mutation
Hitti-Malin, Rebekkah J RJ; Dhaenens, Claire-Marie CM; Panneman, Daan M DM; Corradi, Zelia Z; Khan, Mubeen M; den Hollander, Anneke I AI; Farrar, G Jane GJ; Gilissen, Christian C; Hoischen, Alexander A; van de Vorst, Maartje M; Bults, Femke F; Boonen, Erica G M EGM; Saunders, Patrick P; , ; Roosing, Susanne S; Cremers, Frans P M FPM
Publication Date: 2022-10-19
Variant appearance in text: ABCA4: 2576A>G; Gln859Arg
Deep learning segmentation of hyperautofluorescent fleck lesions in Stargardt disease.
Scientific Reports
Charng, Jason J; Xiao, Di D; Mehdizadeh, Maryam M; Attia, Mary S MS; Arunachalam, Sukanya S; Lamey, Tina M TM; Thompson, Jennifer A JA; McLaren, Terri L TL; De Roach, John N JN; Mackey, David A DA; Frost, Shaun S; Chen, Fred K FK