Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.

Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR.

Nat Commun Volume 10 (2019) p.2373

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