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snpeff effect prediction confusion
So I am trying to figure out why this particular complex variant was annotated with an effect of "start_lost" when I don't see any evidence...
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snpeff effect annotation confusion
So I am trying to figure out why this particular complex variant was annotated with an effect of "start_lost" when I don't see any evidence...
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quick SNP annotation server
I would like to introduce a web-based SNP annotation server (http://jjwanglab.org/snvrap) which provides comprehensive local database of human genome...
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NGS data: append annotations from HGMD
Hi all,
Trying to give sense to the big amount of variants detected after exome sequencing, I was figuring out wether is it possible to...
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CooVar: Co-occurring variant analyzer
http://www.biomedcentral.com/1756-0500/5/615/abstract
Background
Evaluating the impact of genomic variations (GV) on protein-coding...
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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing da
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint...