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Expert Panel Recruiting
December 13, 2016 Dr. Lishuang SHEN 0
2016-09-25 Expert Panel Recruiting: MSeqDr is organizing an expert panel for mitochondrial diseases and pathogenic variants. Welcome to share your expertise. Please visit the site to see current panel members, tools and document
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New tool set: Phenotype-Guided Exome Prioritization with HPO and Exomiser
December 13, 2016 Dr. Lishuang SHEN 0
2016-09-25 New tool set: Phenotype-Guided Exome Prioritization with HPO and Exomiser, with free text translation from medical record to HPO terms, batch run of variant prioritization,enhanced annotation, and result management
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MSeqDR – UMDF Workshop, as the concluding program of Mitochondrial Medicine 2016
December 13, 2016 Dr. Lishuang SHEN 0
2016-06-18 MSeqDR – UMDF Workshop, as the concluding program of Mitochondrial Medicine 2016, Seattle, 06/18/2016
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New MSeqDR Publication in Human Mutation
December 13, 2016 Dr. Lishuang SHEN 0
2016-05-12 New Publication: MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease Hum Mutat. 2016 Jun;37(6):540-8. doi: 10.1002/humu.22974. Epub 2016 Mar 21., Pubmed 26919060 Lishuang Shen, Maria Angela Diroma, Michael Gonzalez, Daniel Navarro-Gomez, Jeremy Leipzig, Marie T Lott, Mannis van Oven, Douglas C Wallace, Colleen Clarke Muraresku, Zarazuela […]
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New MSeqDR Publication
December 13, 2016 Dr. Lishuang SHEN 0
2016-05-09 New MSeqDR Publication: COMMENTARY: From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic…the Mitochondrial Disease Sequence Data Resource (MSeqDR; https://mseqdr.org ). This multidimensional data resource aims… Authors: Marni J. Falk, Lishuang Shen, Xiaowu Gai Cold Spring Harb Mol Case Studies May 2016, 2: a001065 Full Text, Full […]
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CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission
December 13, 2016 Dr. Lishuang SHEN 0
2016-02-12 Project Update: CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission. MSeqDR.org will serve as a permanent site to host the pathogenic variants associated with manuscripts to “CSH Molecular Case Studies”. Novel disease genes and variants can be added to MSeqDR-LSDB. A custom MSeqDR accession number is assigned to all annotated pathogenic variants […]
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MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report
December 13, 2016 Dr. Lishuang SHEN 0
2016-02-09 Project Update: MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report, The Children’s Hospital of Philadelphia . It’s also highlighted in the CSO’s last bullet point: “Find out how a curious researcher contemplating a seemingly unsolvable patient case can reach out to another investigator on the opposite side of the […]
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