ClinVar: public archive of interpretations of clinically relevant variants

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

(2015) Tudor Groza et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Database resources of the National Center for Biotechnology Information

(2014)   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

The InSiGHT database: utilizing 100 years of insights into Lynch Syndrome

(2013) J. P. Plazzer et al.   Familial Cancer

Variation Ontology for annotation of variation effects and mechanisms

(2013) M. Vihinen   GENOME RESEARCH

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

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

NCBI’s Database of Genotypes and Phenotypes: dbGaP

(2013) Kimberly A. Tryka et al.   NUCLEIC ACIDS RESEARCH

CFTR2: How will it help care?

(2013) Carlo Castellani   Paediatric Respiratory Reviews

Representation of rare diseases in health information systems: The orphanet approach to serve a wide range of end users

(2012) Ana Rath et al.   HUMAN MUTATION

dbVar and DGVa: public archives for genomic structural variation

(2012) Ilkka Lappalainen et al.   NUCLEIC ACIDS RESEARCH

Evolution of the Sequence Ontology terms and relationships

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