ClinVar: improving access to variant interpretations and supporting evidence

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Genenames.org: the HGNC and VGNC resources in 2017

(2016) Bethan Yates et al.   NUCLEIC ACIDS RESEARCH

The Human Phenotype Ontology in 2017

(2016) Sebastian Köhler et al.   NUCLEIC ACIDS RESEARCH

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Database resources of the National Center for Biotechnology Information

(2015)   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders

(2014) Joanna S. Amberger et al.   NUCLEIC ACIDS RESEARCH

Database resources of the National Center for Biotechnology Information

(2013)   NUCLEIC ACIDS RESEARCH

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Evolution of the Sequence Ontology terms and relationships

(2010) Christopher J. Mungall et al.   JOURNAL OF BIOMEDICAL INFORMATICS