ClinVar: improving access to variant interpretations and supporting evidence

2014, ClinVar: public archive of relationships among sequence variation and human phenotype, Nucleic Acids Res., 42, D980, 10.1093/nar/gkt1113

2016, ClinVar: public archive of interpretations of clinically relevant variants, Nucleic Acids Res., 44, D862, 10.1093/nar/gkv1222

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2011, The variant call format and VCFtools, Bioinformatics, 27, 2156, 10.1093/bioinformatics/btr330

NCBI Resource Coordinators, 2016, Database resources of the National Center for Biotechnology Information, Nucleic Acids Res., 44, D7, 10.1093/nar/gkv1290

2016, Analysis of protein-coding genetic variation in 60,706 humans, Nature, 536, 285, 10.1038/nature19057

1000 Genomes Project Consortium, 2015, A global reference for human genetic variation, Nature, 526, 68, 10.1038/nature15393

2015, OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, Nucleic Acids Res., 43, D789, 10.1093/nar/gku1205

2011, Evolution of the sequence ontology terms and relationships, J. Biomed. Inform., 44, 87, 10.1016/j.jbi.2010.03.002

NCBI Resource Coordinators, 2014, Database resources of the National Center for Biotechnology Information, Nucleic Acids Res., 42, D7, 10.1093/nar/gkt1146

2017, Genenames.org: the HGNC and VGNC resources in 2017, Nucleic Acids Res., 45, D619, 10.1093/nar/gkw1033

2017, The human phenotype ontology in 2017, Nucleic Acids Res., 45, D865, 10.1093/nar/gkw1039