[HTML][HTML] CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
CIViC is an expert-crowdsourced knowledgebase for Clinical Interpretation of Variants in
Cancer describing the therapeutic, prognostic, diagnostic and predisposing relevance of …
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 …
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 …
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) …
Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …
DoCM: a database of curated mutations in cancer
Large-scale cancer genomics discovery projects such as The Cancer Genome Atlas (TCGA)
and the International Cancer Genome Consortium (ICGC) have systematically characterized …
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 …
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
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 …
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 …
variant classification remains in its infancy. While recent guidelines put forth jointly by the …
Clinical analysis and interpretation of cancer genome data
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 …
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 …
abnormalities in tumors from 50 different cancer types. Genome sequencing reveals …