PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data

被引:0
作者
Elizabeth Wohler
Renan Martin
Sean Griffith
Eliete da S. Rodrigues
Corina Antonescu
Jennifer E. Posey
Zeynep Coban-Akdemir
Shalini N. Jhangiani
Kimberly F. Doheny
James R. Lupski
David Valle
Ada Hamosh
Nara Sobreira
机构
[1] Johns Hopkins University School of Medicine,Department of Genetic Medicine
[2] Johns Hopkins School of Medicine,Center for Inherited Disease Research
[3] Baylor College of Medicine, CIDR
[4] Baylor College of Medicine,Department of Molecular and Human Genetics
[5] Baylor College of Medicine,Human Genome Sequencing Center
[6] Texas Children’s Hospital,Department of Pediatrics
来源
Orphanet Journal of Rare Diseases | / 16卷
关键词
PhenoDB; GeneMatcher; VariantMatcher; Data sharing; Genomic data;
D O I
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