[HTML][HTML] CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer

M Griffith, NC Spies, K Krysiak, JF McMichael… - Nature …, 2017 - nature.com
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in
Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of …

CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase

K Krysiak, AM Danos, J Saliba… - Nucleic acids …, 2023 - academic.oup.com
Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb. org) is a crowd-sourced,
public domain knowledgebase composed of literature-derived evidence characterizing the …

[HTML][HTML] A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer

AH Wagner, B Walsh, G Mayfield, D Tamborero… - Nature …, 2020 - nature.com
Precision oncology relies on accurate discovery and interpretation of genomic variants,
enabling individualized diagnosis, prognosis and therapy selection. We found that six …

[HTML][HTML] Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen) …

P Horak, M Griffith, AM Danos, BA Pitel, S Madhavan… - Genetics in …, 2022 - Elsevier
Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …

DoCM: a database of curated mutations in cancer

BJ Ainscough, M Griffith, AC Coffman, AH Wagner… - Nature …, 2016 - nature.com
Large-scale cancer genomics discovery projects such as The Cancer Genome Atlas (TCGA)
and the International Cancer Genome Consortium (ICGC) have systematically characterized …

A federated ecosystem for sharing genomic, clinical data

Global Alliance for Genomics and Health* - Science, 2016 - science.org
Early data-sharing efforts have led to improved variant interpretation and development of
treatments for rare diseases and some cancer types (–). However, such benefits will only be …

[HTML][HTML] Standardized decision support in next generation sequencing reports of somatic cancer variants

R Dienstmann, F Dong, D Borger, D Dias-Santagata… - Molecular …, 2014 - Elsevier
Of hundreds to thousands of somatic mutations that exist in each cancer genome, a large
number are unique and non-recurrent variants. Prioritizing genetic variants identified via …

The current state of clinical interpretation of sequence variants

DC Hoskinson, AM Dubuc, H Mason-Suares - Current opinion in genetics & …, 2017 - Elsevier
Accurate and consistent variant classification is required for Precision Medicine. But clinical
variant classification remains in its infancy. While recent guidelines put forth jointly by the …

Clinical analysis and interpretation of cancer genome data

EM Van Allen, N Wagle, MA Levy - Journal of clinical oncology, 2013 - ascopubs.org
The scale of tumor genomic profiling is rapidly outpacing human cognitive capacity to make
clinical decisions without the aid of tools. New frameworks are needed to help researchers …

Computational approaches to identify functional genetic variants in cancer genomes

Nature methods, 2013 - nature.com
Abstract The International Cancer Genome Consortium (ICGC) aims to catalog genomic
abnormalities in tumors from 50 different cancer types. Genome sequencing reveals …