GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Human Mutation - Tập 36 Số 10 - Trang 928-930 - 2015
Nara Sobreira1, François Schiettecatte2, David Valle1, Ada Hamosh1
1Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland
2FS Consulting, Salem, Massachusetts

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Tài liệu tham khảo

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Köhler, 2014, The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data, Nucleic Acids Res, 42, D966, 10.1093/nar/gkt1026

Sobreira, 2015, New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene, Hum Mutat, 36, 425, 10.1002/humu.22769

Yang, 2014, Molecular findings among patients referred for clinical whole-exome sequencing, JAMA, 312, 1870, 10.1001/jama.2014.14601