Welcome to AutoPVS1

An automatic classification tool for PVS1 interpretation of null variants




Example: X-82763936-A-T, 2-48033984-G-GGATT, NM_000128.3:c.1716+1G>A, MYH9, 11-2797090-2869333-DEL, tdup(17:7577936-7585058)

Automatic PVS1 interpretation (AutoPVS1) is an automatic classification tool developed by BGI Genomics to support PVS1 interpretation of null variants. AutoPVS1 is based on the recommendations outlined by ClinGen’s SVI Working Group, which consists of two steps. The first step is to address variant specific issues; the second step is to consider disease mechanisms. We define the results of the first step as “preliminary PVS1 strength” and the results of the second step as “adjusted PVS1 strength”.



Reference:
[new] Jiale Xiang, Jiguang Peng, Samantha Baxter, Zhiyu Peng. (2020). AutoPVS1: An automatic classification tool for PVS1 interpretation of null variants. Hum Mutat 41, 1488-1498. (Editor's choice and cover article)

Abou Tayoun, A.N., Pesaran, T., DiStefano, M.T., Oza, A., Rehm, H.L., Biesecker, L.G., Harrison, S.M., and ClinGen Sequence Variant Interpretation Working Group. (2018). Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. Hum Mutat 39, 1517-1524.