Nature Genetics · 2017 · 674 citations · 21 references
Life SciencesBioinformaticsBiomedical InformaticsCancer GeneticsClinical InformaticsMedical GeneticsCancer GenomicsComputational OncologyGenetic Risk AssessmentMalignant NeoplasmsVariant ClassificationVariant InterpretationCancer BioinformaticsCancer Genomics DatabasesClinical Variant ReportingVariant AnnotationVariant Interpretation In Oncology
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of inherited and somatic variants of all types. CIViC is committed to open-source code, open-access content, public application programming interfaces (APIs) and provenance of supporting evidence to allow for the transparent creation of current and accurate variant interpretations for use in cancer precision medicine.
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Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text
A New Initiative on Precision Medicine
Francis S. Collins, Harold Varmus · New England Journal of Medicine · 2015 · 5.2K citations · Full text
ClinVar: public archive of interpretations of clinically relevant variants
Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2015 · 2.9K citations · Full text
COSMIC: somatic cancer genetics at high-resolution
Simon Forbes, David Beare, Harry Boutselakis et al. · Nucleic Acids Research · 2016 · 2.1K citations · Full text
ClinGen — The Clinical Genome Resource
Heidi L. Rehm, Jonathan S. Berg, Lisa Brooks et al. · New England Journal of Medicine · 2015 · 1.5K citations · Full text
Life Sciences, Cardiology, Genetics +17