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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 that are either submitted by users or batch extracted from other databases such as ClinVar or Ensembl, each containing a unique “MSCV” (MSeqDR Clinically-related Variant) identifier with a 7-digit code. Users can readily submit variants, in either VCF or HGVS formats, using the custom MSeqDR ‘Pathogenic variant submission tool’ (https://mseqdr.org/submission.php)
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MSeqDR-Genesis and Dr. Marni Falk are featured in the 2015 CHOP Annual Report New MSeqDR Publication
- Project Update: CSH Molecular Case Studies Designates MSeqDR for Manuscript Variant Submission.
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