Clinical Interpretation of Variants in Cancer
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Clinical Interpretation of Variants in Cancer
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
CIViC
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Names
More detailed information about this field from each metasource.
Clinical Interpretation of Variants in Cancer
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
CIViC
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Names
More detailed information about this field from each metasource.
Clinical Interpretation of Variants in Cancer
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
CIViC
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
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. Realizing precision medicine will require information to be centralized, debated and interpreted for application in the clinic. CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer. Our goal is to enable precision medicine by providing an educational forum for dissemination of knowledge and active discussion of the clinical significance of cancer genome alterations.
Description
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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. Realizing precision medicine will require information to be centralized, debated and interpreted for application in the clinic. CIViC is an open access, open source, community-driven web resource for Clinical Interpretation of Variants in Cancer. Our goal is to enable precision medicine by providing an educational forum for dissemination of knowledge and active discussion of the clinical significance of cancer genome alterations.
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Webpage:
https://civicdb.org/Webpage
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https://civicdb.org/
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Licence:
Name: Creative Commons CC0 1.0 Universal (CC0 1.0) Public Domain DedicationLicence name
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Creative Commons CC0 1.0 Universal (CC0 1.0) Public Domain Dedication
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Licence URL
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https://creativecommons.org/publicdomain/zero/1.0/
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Publications:
Publications
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CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
PMID: 28138153
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
PMID: 30311370
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Publications
More detailed information about this field from each metasource.
CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
PMID: 28138153
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
PMID: 30311370
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
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CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
PubMed citations: 212.
212 articles citing: CIViC is a community knowledgebase for expert crowdsourcing the clinical interpretation of variants in cancer
PO2RDF: representation of real-world data for precision oncology using resource description framework. PMID:35907849
Genomic Landscape, Clinical Features and Outcomes of Non-Small Cell Lung Cancer Patients Harboring BRAF Alterations of Distinct Functional Classes. PMID:35884534
Genetic variation associated with condensate dysregulation in disease. PMID:35809564
Targeted Therapy for Adrenocortical Carcinoma: A Genomic-Based Search for Available and Emerging Options. PMID:35681700
scAmpi-A versatile pipeline for single-cell RNA-seq analysis from basics to clinics. PMID:35658001
Multi-Omic Data Improve Prediction of Personalized Tumor Suppressors and Oncogenes. PMID:35620468
CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer. PMID:35544644
A pan-cancer survey of cell line tumor similarity by feature-weighted molecular profiles. PMID:35475239
Bioinformatic Challenges Detecting Genetic Variation in Precision Medicine Programs. PMID:35463004
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. PMID:35366592
Liquid Biopsy and Artificial Intelligence as Tools to Detect Signatures of Colorectal Malignancies: A Modern Approach in Patient's Stratification. PMID:35356214
Whole exome sequencing of pediatric leukemia reveals a novel InDel within FLT-3 gene in AML patient from Mizo tribal population, Northeast India. PMID:35350997
Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics. PMID:35346197
Distinct Genomic Profiles Are Associated with Treatment Response and Survival in Ovarian Cancer. PMID:35326660
The GA4GH Variation Representation Specification: A computational framework for variation representation and federated identification. PMID:35311178
Anaplastic thyroid cancer: genome-based search for new targeted therapy options. PMID:35275096
Single-Cell Sequencing Technologies in Precision Oncology. PMID:35230694
Computational Resources for the Interpretation of Variations in Cancer. PMID:35230689
Pathway Analysis for Cancer Research and Precision Oncology Applications. PMID:35230687
The Architecture of a Precision Oncology Platform. PMID:35230680
The Molecular Tumor Board Portal supports clinical decisions and automated reporting for precision oncology. PMID:35221333
Effective drug combinations in breast, colon and pancreatic cancer cells. PMID:35197630
The EurOPDX Data Portal: an open platform for patient-derived cancer xenograft data sharing and visualization. PMID:35193494
Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer. PMID:35148171
A platform for oncogenomic reporting and interpretation. PMID:35140225
Integrative Genomic Analyses of 1,145 Patient Samples Reveal New Biomarkers in Esophageal Squamous Cell Carcinoma. PMID:35127817
Discovery through clinical sequencing in oncology. PMID:35122052
Integrating molecular profiles into clinical frameworks through the Molecular Oncology Almanac to prospectively guide precision oncology. PMID:35121878
Moving pan-cancer studies from basic research toward the clinic. PMID:35121865
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC). PMID:35101336
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas. PMID:35047820
NETME: on-the-fly knowledge network construction from biomedical literature. PMID:35013714
Artificial intelligence in clinical research of cancers. PMID:34929741
The histologic phenotype of lung cancers is associated with transcriptomic features rather than genomic characteristics. PMID:34873156
Genomic and molecular features distinguish young adult cancer from later-onset cancer. PMID:34788626
Patient similarity network of newly diagnosed multiple myeloma identifies patient subgroups with distinct genetic features and clinical implications. PMID:34788103
The Human Disease Ontology 2022 update. PMID:34755882
Development and Validation of Targeted Gene Sequencing Panel Based Companion Diagnostic for Korean Patients with Solid Tumors. PMID:34680263
Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis. PMID:34630336
JCGA: the Japanese version of the Cancer Genome Atlas and its contribution to the interpretation of gene alterations detected in clinical cancer genome sequencing. PMID:34588443
Validation of an NGS Panel Designed for Detection of Actionable Mutations in Tumors Common in Latin America. PMID:34575676
VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. PMID:34570217
ISOTOPE: ISOform-guided prediction of epiTOPEs in cancer. PMID:34529669
Gene Mutation Analysis in Papillary Thyroid Carcinoma Using a Multi-Gene Panel in China. PMID:34511996
Information Retrieval Using Machine Learning for Biomarker Curation in the Exposome-Explorer. PMID:34490412
Comprehensive characterization of 536 patient-derived xenograft models prioritizes candidatesfor targeted treatment. PMID:34429404
Comparative analysis of nuclear and mitochondrial DNA from tissue and liquid biopsies of colorectal cancer patients. PMID:34408162
Merida: a novel boolean logic based integer linear program for personalized cancer therapy. PMID:34352075
Identification of Variants Associated With Rare Hematological Disorder Erythrocytosis Using Targeted Next-Generation Sequencing Analysis. PMID:34349782
The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets. PMID:34326338
Tumor Mutation Burden Prediction Model in Egyptian Breast Cancer patients based on Next Generation Sequencing. PMID:34319027
Reboot: a straightforward approach to identify genes and splicing isoforms associated with cancer patient prognosis. PMID:34316711
MUSTARD-a comprehensive resource of mutation-specific therapies in cancer. PMID:34309639
The mutational profile of immune surveillance genes in diagnostic and refractory/relapsed DLBCLs. PMID:34275438
Prevalence and Landscape of Actionable Genomic Alterations in Renal Cell Carcinoma. PMID:34261695
ctDNA MRD Detection and Personalized Oncogenomic Analysis in Oligometastatic Colorectal Cancer From Plasma and Urine. PMID:34250420
Identification and monitoring of mutations in circulating cell-free tumor DNA in hepatocellular carcinoma treated with lenvatinib. PMID:34174931
Criteria-based curation of a therapy-focused compendium to support treatment recommendations in precision oncology. PMID:34162978
Therapeutic Implications of Germline Testing in Patients With Advanced Cancers. PMID:34133209
Prognostic Genetic Biomarkers Based on Oncogenic Signaling Pathways for Outcome Prediction in Patients with Oral Cavity Squamous Cell Carcinoma. PMID:34070941
A multiple network-based bioinformatics pipeline for the study of molecular mechanisms in oncological diseases for personalized medicine. PMID:34050359
Comprehensive analysis of oncogenic signatures and consequent repurposed drugs in TMPRSS2:ERG fusion-positive prostate cancer. PMID:34047472
The Human Salivary Proteome Wiki: A Community-Driven Research Platform. PMID:34032471
Knowledge bases and software support for variant interpretation in precision oncology. PMID:33971666
Molecular Profiling-Based Assignment of Cancer Therapy (NCI-MPACT): A Randomized Multicenter Phase II Trial. PMID:33928209
APICURON: a database to credit and acknowledge the work of biocurators. PMID:33882120
Development and Analytical Validation of a Targeted Next-Generation Sequencing Panel to Detect Actionable Mutations for Targeted Therapy. PMID:33854338
OncoGEMINI: software for investigating tumor variants from multiple biopsies with integrated cancer annotations. PMID:33771218
Clinical cancer genomic profiling. PMID:33762738
Swiss-PO: a new tool to analyze the impact of mutations on protein three-dimensional structures for precision oncology. PMID:33737716
A showcase study on personalized in silico drug response prediction based on the genetic landscape of muscle invasive bladder cancer. PMID:33712636
Comparison of Open-access Databases for Clinical Variant Interpretation in Cancer: A Case Study of MDS/AML. PMID:33608312
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors. PMID:33556149
Whole-genome characterization of lung adenocarcinomas lacking the RTK/RAS/RAF pathway. PMID:33535033
Artificial Intelligence Pipeline to Bridge the Gap between Bench Researchers and Clinical Researchers in Precision Medicine. PMID:33511289
Online informatics resources to facilitate cancer target and chemical probe discovery. PMID:33479663
VarStack: a web tool for data retrieval to interpret somatic variants in cancer. PMID:33247936
Integration of the Drug-Gene Interaction Database (DGIdb 4.0) with open crowdsource efforts. PMID:33237278
Factors influencing cancer genetic somatic mutation test ordering by cancer physician. PMID:33183308
Linking Pharmacogenomic Information on Drug Safety and Efficacy with Ethnic Minority Populations. PMID:33113799
CNCDatabase: a database of non-coding cancer drivers. PMID:33095860
Validation and clinical application of a targeted next-generation sequencing gene panel for solid and hematologic malignancies. PMID:33083132
Functional Precision Medicine Identifies New Therapeutic Candidates for Medulloblastoma. PMID:33046443
Comparison of three commercial decision support platforms for matching of next-generation sequencing results with therapies in patients with cancer. PMID:32967919
Mouse-human co-clinical trials demonstrate superior anti-tumour effects of buparlisib (BKM120) and cetuximab combination in squamous cell carcinoma of head and neck. PMID:32963347
The mutational landscape of the SCAN-B real-world primary breast cancer transcriptome. PMID:32926574
Comparison of Annotation Services for Next-Generation Sequencing in a Large-Scale Precision Oncology Program. PMID:32923873
Next-Generation Sequencing and the Clinical Oncology Workflow: Data Challenges, Proposed Solutions, and a Call to Action. PMID:32923847
Comparative Analysis of Public Knowledge Bases for Precision Oncology. PMID:32914021
KAT6A amplifications are associated with shorter progression-free survival and overall survival in patients with endometrial serous carcinoma. PMID:32877461
From Patient Engagement to Precision Oncology: Leveraging Informatics to Advance Cancer Care. PMID:32823322
OncoPDSS: an evidence-based clinical decision support system for oncology pharmacotherapy at the individual level. PMID:32770988
A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology. PMID:32758285
Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors. PMID:32738923
Development and validation of Houston Methodist Variant Viewer version 3: updates to our application for interpretation of next-generation sequencing data. PMID:32734171
Patient-derived ovarian cancer organoids capture the genomic profiles of primary tumours applicable for drug sensitivity and resistance testing. PMID:32724113
Collaborative, Multidisciplinary Evaluation of Cancer Variants Through Virtual Molecular Tumor Boards Informs Local Clinical Practices. PMID:32644817
The Community Oncology and Academic Medical Center Alliance in the Age of Precision Medicine: Cancer Genetics and Genomics Considerations. PMID:32640668
Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach. PMID:32546937
Landscape and function of multiple mutations within individual oncogenes. PMID:32494066
Exomes of Ductal Luminal Breast Cancer Patients from Southwest Colombia: Gene Mutational Profile and Related Expression Alterations. PMID:32365829
Targeted next generation sequencing identifies somatic mutations in a cohort of Egyptian breast cancer patients. PMID:32322420
Establishment and characterization of patient-derived xenografts as paraclinical models for head and neck cancer. PMID:32293356
A harmonized meta-knowledgebase of clinical interpretations of somatic genomic variants in cancer. PMID:32246132
CIViCpy: A Python Software Development and Analysis Toolkit for the CIViC Knowledgebase. PMID:32191543
Wikidata as a knowledge graph for the life sciences. PMID:32180547
OncoMX: A Knowledgebase for Exploring Cancer Biomarkers in the Context of Related Cancer and Healthy Data. PMID:32142370
A Review of Precision Oncology Knowledgebases for Determining the Clinical Actionability of Genetic Variants. PMID:32117976
Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data. PMID:32107691
Adopting solutions for annotation and reporting of next generation sequencing in clinical practice. PMID:32099889
Requirements Analysis and Specification for a Molecular Tumor Board Platform Based on cBioPortal. PMID:32050609
A virtual molecular tumor board to improve efficiency and scalability of delivering precision oncology to physicians and their patients. PMID:32025647
AMLVaran: a software approach to implement variant analysis of targeted NGS sequencing data in an oncological care setting. PMID:32019565
Development of a Precision Medicine Workflow in Hematological Cancers, Aalborg University Hospital, Denmark. PMID:32013121
Evidence-Based Network Approach to Recommending Targeted Cancer Therapies. PMID:31990579
Molecular profiling for precision cancer therapies. PMID:31937368
Future of Evidence Synthesis in Precision Oncology: Between Systematic Reviews and Biocuration. PMID:31930186
Generation and characterization of a mitotane-resistant adrenocortical cell line. PMID:31910152
Genome analysis and knowledge-driven variant interpretation with TGex. PMID:31888639
Japanese version of The Cancer Genome Atlas, JCGA, established using fresh frozen tumors obtained from 5143 cancer patients. PMID:31863614
ClinVAP: a reporting strategy from variants to therapeutic options. PMID:31830259
GliomaDB: A Web Server for Integrating Glioma Omics Data and Interactive Analysis. PMID:31811943
Text-mining clinically relevant cancer biomarkers for curation into the CIViC database. PMID:31796060
Standard operating procedure for curation and clinical interpretation of variants in cancer. PMID:31779674
Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing. PMID:31765373
The genomic landscape of metastatic castration-resistant prostate cancers reveals multiple distinct genotypes with potential clinical impact. PMID:31748536
Next-generation sequencing reveals unique combination of mutations in cis of CSF3R in atypical chronic myeloid leukemia. PMID:31692115
Pan-cancer whole-genome analyses of metastatic solid tumours. PMID:31645765
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). PMID:31645350
Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes. PMID:31618044
Precision oncology: lessons learned and challenges for the future. PMID:31616176
Tracking longitudinal genetic changes of circulating tumor DNA (ctDNA) in advanced Lung adenocarcinoma treated with chemotherapy. PMID:31597567
Integrated genomic profiling expands clinical options for patients with cancer. PMID:31570899
The genomic landscape of metastatic breast cancer highlights changes in mutation and signature frequencies. PMID:31570896
Dissecting molecular mechanisms of resistance to NOTCH1-targeted therapy in T-cell acute lymphoblastic leukemia xenografts. PMID:31467126
Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variants. PMID:31443733
Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants. PMID:31439692
Identification of key genes in osteosarcoma by meta‑analysis of gene expression microarray. PMID:31432118
VIST - a Variant-Information Search Tool for precision oncology. PMID:31419935
The pivotal role of sampling recurrent tumors in the precision care of patients with tumors of the central nervous system. PMID:31371350
Clinical Applications of Next-Generation Sequencing in Precision Oncology. PMID:31335390
Semalytics: a semantic analytics platform for the exploration of distributed and heterogeneous cancer data in translational research. PMID:31287543
Implementing the FAIR Data Principles in precision oncology: review of supporting initiatives. PMID:31263868
Genomic data analysis workflows for tumors from patient-derived xenografts (PDXs): challenges and guidelines. PMID:31262303
A Decade of Translational Bioinformatics: A Retrospective Analysis of "Year-in-Review" Presentations. PMID:31258986
ResMarkerDB: a database of biomarkers of response to antibody therapy in breast and colorectal cancer. PMID:31169290
RHOA in Gastric Cancer: Functional Roles and Therapeutic Potential. PMID:31156701
Computational analysis of data from a genome-wide screening identifies new PARP1 functional interactors as potential therapeutic targets. PMID:31105872
The incidence of consecutive manifestations in Von Hippel-Lindau disease. PMID:31087189
AlloDriver: a method for the identification and analysis of cancer driver targets. PMID:31069394
ClinOmicsTrailbc: a visual analytics tool for breast cancer treatment stratification. PMID:31038669
[Detection and interpretation of somatic variants in molecular pathology]. PMID:31037375
The Evolving Landscape of Cancer Stem Cells and Ways to Overcome Cancer Heterogeneity. PMID:31013960
Elucidation of Novel Therapeutic Targets for Acute Myeloid Leukemias with RUNX1-RUNX1T1 Fusion. PMID:30959925
Precision oncogenomics. PMID:30936200
Undifferentiated Sarcomas Develop through Distinct Evolutionary Pathways. PMID:30889380
Precision Medicine for Relapsed Multiple Myeloma on the Basis of an Integrative Multiomics Approach. PMID:30706044
D3Oncoprint: Stand-Alone Software to Visualize and Dynamically Explore Annotated Genomic Mutation Files. PMID:30652557
Knowledge base toward understanding actionable alterations and realizing precision oncology. PMID:30542800
Database of evidence for precision oncology portal. PMID:30535306
PDX Finder: A portal for patient-derived tumor xenograft model discovery. PMID:30535239
Variant information systems for precision oncology. PMID:30463544
Human Disease Ontology 2018 update: classification, content and workflow expansion. PMID:30407550
PreMedKB: an integrated precision medicine knowledgebase for interpreting relationships between diseases, genes, variants and drugs. PMID:30407536
BioInstaller: a comprehensive R package to construct interactive and reproducible biological data analysis applications based on the R platform. PMID:30402350
A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data. PMID:30397337
ClinGen Allele Registry links information about genetic variants. PMID:30311374
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards. PMID:30311370
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples. PMID:30287923
SMART Cancer Navigator: A Framework for Implementing ASCO Workshop Recommendations to Enable Precision Cancer Medicine. PMID:30238071
Cancer Informatics in 2017: A New Beginning and a Bright Future. PMID:30157527
Novel clinicopathological and molecular characterization of metanephric adenoma: a study of 28 cases. PMID:30111351
Computational resources associating diseases with genotypes, phenotypes and exposures. PMID:30102366
Making the right calls in precision oncology. PMID:30080824
Crowdsourcing image analysis for plant phenomics to generate ground truth data for machine learning. PMID:30059508
BioMuta and BioXpress: mutation and expression knowledgebases for cancer biomarker discovery. PMID:30053270
Computational Approaches to Prioritize Cancer Driver Missense Mutations. PMID:30037003
A systematic assessment of the availability and clinical drug information coverage of machine-readable clinical drug data sources for building knowledge translation products. PMID:29982512
Standardizing And Democratizing Access To Cancer Molecular Diagnostic Test Data From Patients To Drive Translational Research. PMID:29888062
Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma. PMID:29747488
Genomics and electronic health record systems. PMID:29741693
The emerging clinical relevance of genomics in cancer medicine. PMID:29599476
Sample-Index Misassignment Impacts Tumour Exome Sequencing. PMID:29593270
Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations. PMID:29592813
Disease Ontology: improving and unifying disease annotations across species. PMID:29590633
From somatic variants towards precision oncology: Evidence-driven reporting of treatment options in molecular tumor boards. PMID:29544535
Unexplored therapeutic opportunities in the human genome. PMID:29472638
Classifying cancer genome aberrations by their mutually exclusive effects on transcription. PMID:29322935
Interactive or static reports to guide clinical interpretation of cancer genomics. PMID:29315417
Using single-cell multiple omics approaches to resolve tumor heterogeneity. PMID:29285690
Drug Target Commons: A Community Effort to Build a Consensus Knowledge Base for Drug-Target Interactions. PMID:29276046
Personal Cancer Genome Reporter: variant interpretation report for precision oncology. PMID:29272339
Bioinformatics for precision oncology. PMID:29272324
eGARD: Extracting associations between genomic anomalies and drug responses from text. PMID:29261751
Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework. PMID:29254494
Informatics for cancer immunotherapy. PMID:29253114
ClinGen Cancer Somatic Working Group - standardizing and democratizing access to cancer molecular diagnostic data to drive translational research. PMID:29218886
Personalized cancer therapy-leveraging a knowledge base for clinical decision-making. PMID:29212833
DGIdb 3.0: a redesign and expansion of the drug-gene interaction database. PMID:29156001
Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance. PMID:29127303
Systematically linking tranSMART, Galaxy and EGA for reusing human translational research data. PMID:29123641
Resources for Interpreting Variants in Precision Genomic Oncology Applications. PMID:28975082
tmVar 2.0: integrating genomic variant information from literature with dbSNP and ClinVar for precision medicine. PMID:28968638
OncoKB: A Precision Oncology Knowledge Base. PMID:28890946
Precision Oncology: The Road Ahead. PMID:28887051
Managing the genomic revolution in cancer diagnostics. PMID:28639053
Toward Molecularly Driven Precision Medicine in Lung Adenocarcinoma. PMID:28576842
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data. PMID:28569218
mTCTScan: a comprehensive platform for annotation and prioritization of mutations affecting drug sensitivity in cancers. PMID:28482068
PathOS: a decision support system for reporting high throughput sequencing of cancers in clinical diagnostic laboratories. PMID:28438193
Genomics pipelines and data integration: challenges and opportunities in the research setting. PMID:28092471
Somatic cancer variant curation and harmonization through consensus minimum variant level data. PMID:27814769 -
Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
PubMed citations: 7.
7 articles citing: Adapting crowdsourced clinical cancer curation in CIViC to the ClinGen minimum variant level data community-driven standards
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions. PMID:35692825
Standardized evidence-based approach for assessment of oncogenic and clinical significance of NTRK fusions. PMID:35366592
The International Collaboration for Cancer Classification and Research. PMID:32818326
CIViCpy: A Python Software Development and Analysis Toolkit for the CIViC Knowledgebase. PMID:32191543
Standard operating procedure for curation and clinical interpretation of variants in cancer. PMID:31779674
A case for expert curation: an overview of cancer curation in the Clinical Genome Resource (ClinGen). PMID:31645350
Knowledge base toward understanding actionable alterations and realizing precision oncology. PMID:30542800
Tags:
Tags
More detailed information about this field from each metasource.
cancer
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
diagnosis
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
genome
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
sequence variant
metasource: Fairsharing.org
version: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
Tags
More detailed information about this field from each metasource.
cancer
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
diagnosis
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
genome
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
sequence variant
metasource: Fairsharing.orgversion: FAIRsharing.org: CIViC; Clinical Interpretation of Variants in Cancer; DOI: https://doi.org/10.25504/FAIRsharing.Yedluf; Last edited: March 21, 2019, 3:53 p.m.; Last accessed: Jan 03 2022 7:07 p.m.
cancer diagnosis genome sequence variant
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