autopvs1
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An automatic classification tool for PVS1 interpretation of null variants
While trying to locally set up the autopvs1 I found out, that there are links with http prefix. However, most of the occurancies led to https:... links. Hopefuly my changes...
>>> demo = AutoPVS1('13-113149093-G-A', 'GRCh38') >>> print(demo.hgvs_c, demo.hgvs_p, demo.consequence, demo.pvs1.criterion, demo.pvs1.strength_raw, demo.pvs1.strength) NM_000504.4:c.1043G>A NP_000495.1:p.Trp348Ter nonsense NF5 Strength.Strong Strength.Moderate http://autopvs1.genetics.bgi.com/variant/hg38/13-31247103-C-T My version of VEP is 108.2. Do I have to change...