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ClinVar style variant submission and curation system version 2 is released
August 2, 2018 Dr. Lishuang SHEN 0
ClinVar style variant submission and curation version 2 MSeqDR.org implemented this tool to support pre-ClinVar stage pathogenicity data capture and curation. The completed variant data will be compatible with the ClinVar submission requirements, and potentially generate ready-to-submit Excel file or API direct submission to ClinVar. It now captures data for more than 90 fields from […]
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The “Mitochondrial Disease Variant Curation Expert Panel” by MSeqDR Consortium
July 30, 2018 Dr. Lishuang SHEN 0
The”Mitochondrial Disease Variant Curation Expert Panel” is formed by the MSeqDR Consortium and members. It is going through the approval process by ClinGen, ClinGen Clinical Domain Working Group Mitochondrial Disease Variant Curation Expert Panel Affiliated to Inborn Errors of Metabolism Clinical Domain Working Group URL: https://www.clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism-clinical-domain-working-group/mitochondrial-disease/ Expert curation to assess variant pathogenicity in the most […]
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The “Mitochondrial Disease Gene Curation Expert Panel” by MSeqDR Consortium
July 30, 2018 Dr. Lishuang SHEN 0
The”Mitochondrial Disease Gene Curation Expert Panel” is formed by the MSeqDR Consortium and members. It is going through the approval process by ClinGen, ClinGen Clinical Domain Working Group Mitochondrial Disease Gene Curation Expert Panel Affiliated to Inborn Errors of Metabolism Clinical Domain Working Group URL: https://www.clinicalgenome.org/working-groups/clinical-domain/inborn-errors-of-metabolism-clinical-domain-working-group/mitochondrial-disease-gene-curation-expert-panel/ With the rapid increase in identified genes that […]
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MSeqDR presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium
July 13, 2018 Dr. Lishuang SHEN 0
MSeqDR team presented the 4th year tutorial workshop, at the UMDF Mitochondrial Medicine Symposium Location: Nashville, TN Date: June 30, 2018 Team Members: Lishuang Shen, PhD; Xiaowu Gai, PhD Children’s Hospital of Los Angeles Colleen C. Muraresku, MS, LCGC; Elizabeth M. McCormick, MS, LCGC; Zarazuela Zolkipli-Cunningham, MBChB MRCP; Amy Goldstein, MD; Marni J. Falk, […]
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MSeqDR has Tripled the LSDB Variants to 11,800 since UMDF 2017
July 1, 2018 Dr. Lishuang SHEN 0
MSeqDR Tripled the MSeqDR-LSDB Variants since Mitochondrial Medicine 2017 MSeqDR-LSDB Data Added: 8000+ Pathogenicity Assessed Variants , Total: 11,800 40 more Mitochondrial Diseases, complied from OMIM and other literature, Total: 225 20 more Mitochondrial Diseases Related Genes, Total 1607 LSDB Status The LOVD back-end is updated to V.21 (April, 2018) The results are presented at […]
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New publications on clinical review of mitochondrial disease, in Current Genetic Medicine Reports
May 2, 2018 Dr. Lishuang SHEN 0
Congratulations to Colleen, Elizabeth, and Marni on two great up-to-date clinical review of Mitochondrial Disease just published in Current Genetic Medicine Reports! 1. Mitochondrial Disease: Advances in Clinical Diagnosis, Management, Therapeutic Development, and Preventative Strategies Colleen C. Muraresku, Elizabeth M. McCormick… (May 2018) Download PDF (514KB) View Article Purpose of Review Primary mitochondrial disease […]
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New MSeqDR publication: MSeqDR mvTool: A mitochondrial DNA web and API resource
March 27, 2018 Dr. Lishuang SHEN 0
https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23422 MSeqDR mvTool: A mitochondrial DNA web and API resource for comprehensive variant annotation, universal nomenclature collation, and reference genome conversion Lishuang Shen Marcella Attimonelli Renkui Bai Marie T. Lott Douglas C. Wallace Marni J. Falk Xiaowu Gai First published: 14 March 2018 https://doi.org/10.1002/humu.23422 Abstract Accurate mitochondrial DNA (mtDNA) variant annotation is essential for the […]
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New tool set: Quick-Mitome – Phenotype-Guided WES and WGS Variant Interpretation
February 7, 2018 Dr. Lishuang SHEN 0
New tool set: Quick-Mitome – Phenotype-Guided WES and WGS Variant Interpretation MSeqDR Mito-Quick-ome Web Server provides quick whole genome (WGS) or whole exome (WES) sequencing data interpretation tools to both laymen and expert users, with special supports to mitochondrial diseases and mitochondrial DNA (mtDNA) variants. The required input are uploaded vcf file, pedigree file […]
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Tool update: mvTool V.2 – mtDNA variant annotation and analysis web-service with API
February 7, 2018 Dr. Lishuang SHEN 0
Tool update: mvTool V.2 – mtDNA variant annotation and analysis web-service with API MSeqDR mtDNA Tool set (mvTool), a one-stop mtDNA variant annotation and analysis Web service. mvTool is built upon the MSeqDR infrastructure (https://mseqdr.org), with contributions of expert curated data from MITOMAP (http://www.mitomap.org) and HmtDB (http://www.hmtdb.uniba.it/hmdb). mvTool supports all mtDNA nomenclatures, converts variants […]
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Invitation: Join MSeqDR – UMDF Workshop, 06/30/2018 at Mitochondrial Medicine 2018
February 5, 2018 Dr. Lishuang SHEN 0
Invitation: Join MSeqDR – UMDF Workshop, 06/30/2018 at Mitochondrial Medicine 2018 MSeqDR UMDF Workshop is scheduled to: 06/30/2018 MITOCHONDRIAL MEDICINE 2018 – Nashville Mark Your Calendars Now… Mitochondrial Medicine 2018: Nashville, TN Sheraton Music City 777 McGavock Pike Nashville, TN 37214 USA Scientific/Clinical Program: June 27-30, 2018 Patient/Family and LHON Program: June 28-30, 2018 Course […]
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Mitochondrial biology conferences 2018
February 5, 2018 Dr. Lishuang SHEN 0
Mitochondrial biology conferences 2018: Emerging concepts in mitochondrial biology Rehovot, Israel, February 4-8, 2018 Abstracts Dec 15:http://www.weizmann.ac.il/conferences/Mitochondria2018/ Mitochondrial Biology joint with the meeting on Selective Autophagy, Kyoto, Japan, April 22-26, 2018 http://www.keystonesymposia.org/18Z1 Wellcome Trust, Mitochondrial Medicine Hinxton, UK, May 9-11, 2018 https://coursesandconferences.wellcomegenomecampus.org/events/item.aspx?e=701 Cell Symposium: Multifaceted Mitochondria San Diego, USA, July 4-6, 2018 http://www.cell-symposia.com/mitochondria-2018/conference-speakers.asp […]
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MSeqDR Gene Panel Examiner and Universal Gene ID Mapper
September 25, 2017 Dr. Lishuang SHEN 0
Gene Panel Examiner and Universal Gene ID Mapper Tool update: Gene Panel Examiner V2 with Universal Gene ID Mapper Input HGNC Approved Gene Symbols, Refseq Gene Symbols, Entrez Gene IDs, Ensembl Gene IDs, Refseq Accession, OMIM, UniProt, CCDS, VEGA, or UCSC IDs. Note: Input can be a mixture of IDs from different sources. This tool […]
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mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation
September 25, 2017 Dr. Lishuang SHEN 0
mvTool V2 – Universal mtDNA Variant Converter and One Stop Annotation
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mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data
May 17, 2017 Dr. Lishuang SHEN 0
mvTools is updated to latest version of MitoMaps, HmtDB and ClinVar Data The data is current to May 2017. MSeqDR already has a mvTool for mtDNA variant reference genome conversion and format conversions, and annotations including VEP, Mitomap, MSeqDR data and dbNSFP (latest v3.4a). https://mseqdr.org/mv.php Users may input variants using one of the 7 red […]
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MSeqDR Admin, Curation, Development Roadmap
February 13, 2017 Lishuang Shen 0
MSeqDR Admin, Curation, Development Roadmap V5 Added by Lishuang Shen at Feb 9, 2017 7:37 PM – Last modified by Lishuang Shen at Feb 12, 2017 9:36 AM (View Change) – Restricted – 1 1. MSeqDR local issue tracker: https://mseqdr.org/qdpm/ 2. Trello – MSeqDR SHEN MSeqDR (https://trello.com/b/XeSj1tZw/shen-mseqdr ) 2017-02-09
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MSeqDR mtDNA Expert Panel Members
January 22, 2017 Dr. Lishuang SHEN 0
MSeqDR mtDNA Expert Panel Members 2017-01-22 Last First Affiliation Location Email Lott Marie mitomap CHOP lottm1@email.chop.edu Attimonelli Marcella Bioinformatics Mitochondrial Unit, Dept Biosciences, Biotechnology and Biopharmaceutics; Univ. Bari (IT) Italy marcella.attimonelli@uniba.it Gai Xiaowu MSeqDR/Clinical diagnostic lab CHLA xgai@chla.usc.edu Shen Lishuang MSeqDR/Clinical diagnostic lab CHLA lishen@chla.usc.edu Dulik Matt Clinical diagnostic CHOP dulikm@email.chop.edu Bai Renkui Clinical diagnostic […]
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MSeqDR Clinical Tool Portal
December 13, 2016 Dr. Lishuang SHEN 0
2016-09-25 MSeqDR Clinical Tool Portal – Capture and Utilise Standardized Phenotype Data Using Core Symptoms
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Recent Posts
- Preclinical Study Shows Combination of Vitamins, Supplements May Benefit Mitochondrial Disease
- gnoMAD shares mtDNA variant data from 56,434 whole genome samples
- mvTool v.6: The mtDNA variant reference based on 316,530 whole genome sequences
- MSeqDR is migrated to a new webserver at CHLA
- International Research Team Develops Consensus Variant Classification Guidelines for Genomic Variants in Mitochondrial DNA
- mvTool v.5: New report layout and new mtDNA variant data from 200,000 healthy people
- Recent publications from MSeqDR supported by the UMDF and NIH grants
- ClinGen / ClinVar – MSeqDR Working Groups & Expert Panels
- ClinGen approved the MSeqDR Consortium mitochondrial DNA Sequence Variant Interpretation (SVI) specifications
- U24 Mitochondrial Diseases Expert Panel is establishing 63 genes’ Leigh Disease associations at ClinGen