From case studies to community knowledge base: MSeqDR provides a platform for the curation and genomic analysis of mitochondrial diseases.
作者信息
Falk Marni J, Shen Lishuang, Gai Xiaowu
机构信息
Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA;
Center for Personalized Medicine, Children's Hospital Los Angeles, Los Angeles, California 90027, USA.
出版信息
Cold Spring Harb Mol Case Stud. 2016 May;2(3):a001065. doi: 10.1101/mcs.a001065.
Abstract
摘要
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本文引用的文献
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Cold Spring Harb Mol Case Stud. 2016 May;2(3):a000786. doi: 10.1101/mcs.a000786.
2
MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease.MSeqDR：一个集中式知识储存库和生物信息学网络资源，以促进线粒体疾病的基因组研究。
Hum Mutat. 2016 Jun;37(6):540-548. doi: 10.1002/humu.22974. Epub 2016 Mar 21.
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Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.由PMPCA基因纯合突变引起的常染色体隐性遗传性小脑共济失调。
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ClinVar: public archive of interpretations of clinically relevant variants.ClinVar：临床相关变异解读的公共存档库。
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