publication . Other literature type . Article . 2016

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Shen, Lishuang; Diroma, Maria Angela; Gonzalez, Michael; Navarro-Gomez, Daniel; Leipzig, Jeremy; Lott, Marie T.; Oven, Mannis; Wallace, D.C.; Muraresku, Colleen Clarke; Zolkipli-Cunningham, Zarazuela; ...
Open Access English
  • Published: 01 Jun 2016
Abstract
textabstractMSeqDR is the Mitochondrial Disease Sequence Data Resource, a centralized and comprehensive genome and phenome bioinformatics resource built by the mitochondrial disease community to facilitate clinical diagnosis and research investigations of individual patient phenotypes, genomes, genes, and variants. A central Web portal (https://mseqdr.org) integrates community knowledge from expert-curated databases with genomic and phenotype data shared by clinicians and researchers. MSeqDR also functions as a centralized application server for Web-based tools to analyze data across both mitochondrial and nuclear DNA, including investigator-driven whole exome o...
Subjects
free text keywords: Database, Genetics, Mitochondria, Informatics, Article
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publication . Other literature type . Article . 2016

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Shen, Lishuang; Diroma, Maria Angela; Gonzalez, Michael; Navarro-Gomez, Daniel; Leipzig, Jeremy; Lott, Marie T.; Oven, Mannis; Wallace, D.C.; Muraresku, Colleen Clarke; Zolkipli-Cunningham, Zarazuela; ...