Check HGVS with VEP - Githubissues

mobidic / SEAL

SEAL db - Simple, Efficient And Lite database for NGS

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Check HGVS with VEP #3

Closed Char-Al closed 2 years ago

Char-Al commented 2 years ago

Be careful with HGVS annotation.

Example :

VEP : chr2-179423163-TTCTC-T => chr2:g.179423168_179423171del => NM_133437.4:c.60404_60407del | NP_597681.4:p.Asn20135MetfsTer15 
VV :  chr2:g.179423168_179423171del => NM_133437.4:c.60400_60403del | NP_597681.4:p.(Glu20134IlefsTer16)

Char-Al commented 2 years ago

Maybe see options :

https://www.ensembl.org/info/docs/tools/vep/script/vep_options.html#opt_shift_hgvs

--shift_3prime [0|1] --shift_genomic [0|1]

Char-Al commented 2 years ago