MSeqDR Documentation

MSeqDR Components

  • Data Capture from collaborators and public sources
  • Gbrowse joint genomic feature search and visualization.
  • MSeqDR-LSDB Mitochondrial diseases, pathogenic variants, genes and phenotypes
  • Account & data access management.
  • MSeqDR Consortium MSeqDR Consortium MSeqDR Consortium MSeqDR Consortium

    HBCR variant annotation HBCR

    HBCR Human BP Codon Resource Variant Annotation Pipeline @ MSeqDR. The HBCR tool is developed by Dr. Xiaowu Gai and being re-engineered at MBC at MEEI.

    MITOMAP Variants

    MITOMAP: A human mitochondrial genome database, manually curates polymorphisms and mutations in human mitochondrial DNA. Most of the data is annotated with Pubmed links. Lead by Dr. Doug Wallace at Center for Mitochondrial and Epigenomic Medicine, manually curated by Marie Lott. The MITOMAP database and MITOMASTER tools are being upgraded by Jeremy N Leipzig and Michael Xie of the Center for Biomedical Informatics at the Children's Hospital of Philadelphia. Documentation about "Understanding Mitomap Variants".

    HmtDB Variants, rCRS and RSRS as reference

    HmtDB Variants are annotated by HmtDB Project lead by Dr. Marcella Attimonelli. HmtDB is a Human Mitochondrial Genomic Resource Based on Variability Studies Supporting Population Genetics and Biomedical Research. The variation data came from 15385 healthy samples and 1823 patients. . Readme (word)