Open lbeltrame opened 10 years ago
The protein level annotation that is supported in GEMINI is exclusively for ensembl genes/transcripts as both VEP and snpEFF annotations are based on these. Like wise, the pathways are mapped to these transcripts only. We have no support for RefSeq transcripts in GEMINI?
snpEff can also use hg19 (which I need to use due to the way my experiments are set up). That said, if there's a format for these files, I'm betting they could be regenerated very easily for RefSeq (and if so, I could do that).
I see! Probably linking the pathway files to refseq transcripts should help then.
Sent from my iPhone
On Jan 30, 2014, at 4:18 AM, "Luca Beltrame" notifications@github.com<mailto:notifications@github.com> wrote:
snpEff can also use hg19 (which I need to use due to the way my experiments are set up). That said, if there's a format for these files, I'm betting they could be regenerated very easily for RefSeq (and if so, I could do that).
— Reply to this email directly or view it on GitHubhttps://github.com/arq5x/gemini/issues/258#issuecomment-33671301.
As the KEGG pathways are mapped to Ensembl transcript IDs, any other ID for transcript (example: RefSeq) will fail the checks in the tool, and nothing will be outputted.
This can be inconvenient for data which is annotated against non-Ensembl provided genomes, such as UCSC's hg19.