MSeqDR Tutorials and Examples

MSeqDR Publication

The first paper describing the MSeqDR Project is accepted for publication: Pubmed 25542617, Draft,Fig1 Fig2A Fig2B

Mol Genet Metab. 2014 Dec 4. pii:S1096-7192(14)00377-1. doi: 10.1016/j.ymgme.2014.11.016.

Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities.

Falk MJ, Shen L, Gonzalez M, Leipzig J, Lott MT, Stassen AP, Diroma MA, Navarro-Gomez D, Yeske P, Bai R, Boles RG, Brilhante V, Ralph D, DaRe JT, Shelton R, Terry SF, Zhang Z, Copeland WC, van Oven M, Prokisch H, Wallace DC, Attimonelli M, Krotoski D, Zuchner S, Gai X.

Learning MSeqDR Basics

Short videos

Written materials (TBA)

  • Hands-on exercises and walk throughs

Advanced Usage: Annotation of Variation and Whole Exome Data(TBA)

Short videos

  • Analyzing genomic features in MSeqDR Portal and HBCR Annotation Tool
  • Browsing mutations and disease in MSeqDR LSDB
  • Analyse your Sequence Variants with the GEM.APP

Written materials

  • Exploring diseases and pathogenic variants in LSDB

Talks and publications

Invited talks