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MSeqDR mtDNA Expert Panel Members Added to MSeqDR
February 10, 2017 Lishuang Shen 0
MSeqDR mtDNA Expert Panel Members Added to MSeqDR 2017-02-10 Created login IDs in MSeqDR System for members not in the system yet. https://mseqdr.org/members.php?group_selected=MSeqDR_mtDNA_Expert_Panel Project collaboration site: http://mseqdr.org:8088/portal/g/:spaces:mseqdr_mtdna_expert_panel/mseqdr_mtdna_expert_panel/ Last First Location Email MSeqDR login_id Affiliation Attimonelli Marcella Italy marcella.attimonelli@uniba.it marcellaric Bioinformatics Mitochondrial Unit, Dept Biosciences, Biotechnology and Biopharmaceutics; Univ. Bari (IT) Bai Renkui GeneDx renkui@genedx.com […]
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MSeqDr Project and Dr. Marni Falk are reported in current issue of the CHOP Bench to Bedside monthly online newsletter
December 13, 2016 Dr. Lishuang SHEN 0
2016-12-01 MSeqDr Project and Dr. Marni Falk are reported in current issue of the CHOP Bench to Bedside monthly online newsletter, providing an update on the multifaceted activities of the CHOP and broader mitochondrial disease community to bring to realization new therapy development and clinical trials. The link is available at: http://btob.research.chop.edu/a-critical-mass-of-mitochondrial-disease-research-accelerates-treatment-quest/
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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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