User Activity

  • Modified a comment on discussion General Discussion on snpEff

    Are we going to get the latest (patch 13) version of RefSeq GRCh38? If not, is there an easy way to build that reference myself for snpEff? I need consistency in my pipelines that are using RefSeq p13 hg38 UPDATE: I realized I was editing the wrong config file. This message will come up if the genome you're trying to build is not listed in the config file as per the snpEff docs Still would be nice to have a buit in refSeq GRCh38 patch 13 though in the default snpEff.config, the p7 FTP url points...

  • Modified a comment on discussion General Discussion on snpEff

    UPDATE: I realized I was editing the wrong config file. This message will come up if the genome you're trying to build is not listed in the config file as per the snpEff docs Are we going to get the latest (patch 13) version of RefSeq GRCh38? If not, is there an easy way to build that reference myself for snpEff? I need consistency in my pipelines that are using RefSeq p13 hg38 in the default snpEff.config, the p7 FTP url points here: ftp://ftp.ncbi.nlm.nih.gov/refseq/H_sapiens/ I believe this actually...

  • Posted a comment on discussion General Discussion on snpEff

    Are we going to get the latest (patch 13) version of RefSeq GRCh38? If not, is there an easy way to build that reference myself for snpEff? I need consistency in my pipelines that are using RefSeq p13 hg38 in the default snpEff.config, the p7 FTP url points here: ftp://ftp.ncbi.nlm.nih.gov/refseq/H_sapiens/ I believe this actually contains to the p13 patch of NCBI's data, indicated by the GCF accession IDs present in the FTP directory (haven't verified this) GCF_000001405.25_refseqgene_alignments.gff3...

View All

Personal Data

Username:
ordium
Joined:
2020-06-02 07:02:05

Projects

This is a list of open source software projects that dan is associated with:

  • ICDtools Tools for ICD (International Classification of Diseases) data Last Updated:

Personal Tools