biothings / myvariant.info

MyVariant.info: A BioThings API for human variant annotations
http://myvariant.info
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snpeff annotation switch to use GRCh37 and GRCh38 reference genomes #44

Open newgene opened 6 years ago

newgene commented 6 years ago

Currently, we use "hg19" and "hg38" reference genomes (from UCSC) to produce snpeff annotations. The result misses "gene_id" field (the value is the same as "gene_name"). We can switch to use GRCh37 and GRCh38 reference genomes available here:

https://sourceforge.net/projects/snpeff/files/databases/v4_3/

Also we could upgrade the snpeff version we used too.

newgene commented 3 years ago

see also #112