mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data

mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data

The data is current to May 2017.

MSeqDR already has a mvTool for mtDNA variant reference genome conversion and format conversions, and annotations including VEP, Mitomap, MSeqDR data and dbNSFP (latest v3.4a).   https://mseqdr.org/mv.php

Users may input variants using one of the 7 red formats below, including position only query. And different formats can be mixed as input:

HGVS_Committee m.3054G>A
HGVS_ClinVarNCBI NC_012920.1:m.3054G>A
HGVS_Ensembl MT:g.3054G>A
HGVS_Mutalyzer NC_012920.1:g.3054G>A
VCF  
Variant 3054A

Position 3054
   



Sample input:


#Sample input of a mixture of multiple mtDNA variant nomenclatures:
m.8993T>G
8993G
T8993G
3054A
3066G
15951G
15956C
16205T
16209A
chrMT.6328C>T 
m.13513G>A

 

Dr. Lishuang SHEN

Lishuang Shen MSeqDR WebMaster, Sr. Bioinformatics Scientist, Center for Personalized Medicine, Children's Hospital of Los Angeles, Email: lishen@chla.usc.edu, shen_lishuang@yahoo.com, Suite 300, 2100 W 3rd St, Los Angeles, CA 90057

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