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  • MSeqDR Gene Panel Examiner and Universal Gene ID Mapper

    September 25, 2017 Dr. Lishuang SHEN 0

    Gene Panel Examiner and Universal Gene ID Mapper

    Tool update: Gene Panel Examiner V2 with Universal Gene ID Mapper

    Input HGNC Approved Gene Symbols, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, UniProt, CCDS, VEGA, or UCSC IDs.

    Note: Input can be a mixture of IDs from different sources. This tool maps them to HGNC genes by searching against each of these sources: HGNC Approved Gene Symbols and IDs, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, UniProt, CCDS, VEGA, or UCSC IDs (HGNC version 2017-08-10).

    *Note: HGNC Approved Gene Symbols and Ensembl Gene IDs are the only fully supported input due to complexity in mapping of different gene ID systems. It is recommended that the users first map own input to them using this tool iteratively, or 3rd party tool.

    Categories: MSeqDr.org News, updates, media report

    mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation Mitochondrial biology conferences 2018

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Recent Posts

  • Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
  • gnoMAD shares mtDNA variant data from 56,434 whole genome samples
  • mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
  • MSeqDR is migrated to a new webserver at CHLA
  • International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
  • mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
  • Recent publications from MSeqDR supported by the UMDF and NIH grants
  • ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
  • ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
  • U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen

Tag Cloud

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    • My Bookings
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  • Issue Entry
  • JS Support Ticket
  • MSeqDR PhenoTips
  • MSeqDR-LSDB
  • Our Team
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