Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Integrated Informatics Analysis of Cancer-Related Variants.

JCO clinical cancer informatics - 1 Mar 2020

Pagel Kymberleigh A, Kim Rick, Moad Kyle, Busby Ben, Zheng Lily, Tokheim Collin, Ryan Michael, Karchin Rachel

Abstract excerpt

PURPOSE: The modern researcher is confronted with hundreds of published methods to interpret genetic variants. There are databases of genes and variants, phenotype-genotype relationships, algorithms that score and rank genes, and in silico variant effect prediction tools. Because variant prioritization is a multifactorial problem, a welcome development in the field has been the emergence of decision support...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Computational Biology
Share to Databases, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Neoplasm Proteins

Share to Neoplasms

Share to Software

Share to User-Computer Interface

Share to Workflow

Source

Open in PubMed Open full text

Identifiers

PMID: 32228266
DOI: 10.1200/CCI.19.00132
PMCID: PMC7113103

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Integrated Informatics Analysis of Cancer-Related Variants.PMID 32228266Read ↗

OpenCRAVAT, an open source collaborative platform for the annotation of human genetic variationSemantic proximity Read ↗

CRAVAT: cancer-related analysis of variants toolkit.Semantic proximity Read ↗

CRAVAT 4: Cancer-Related Analysis of Variants ToolkitSemantic proximity Read ↗

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretationSemantic proximity Read ↗

Resources for Interpreting Variants in Precision Genomic Oncology ApplicationsSemantic proximity Read ↗

Genome Nexus: A Comprehensive Resource for the Annotation and Interpretation of Genomic Variants in Cancer.Semantic proximity Read ↗

Comprehensive evaluation of ACMG/AMP-based variant classification tools.Semantic proximity Read ↗

VCF.Filter: interactive prioritization of disease-linked genetic variants from sequencing data.Semantic proximity Read ↗

QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.Semantic proximity Read ↗

CanVar-UK: an online data platform supporting collaborative diagnostic interpretation of germline variants in cancer susceptibility genesSemantic proximity Read ↗

GeneTerpret: a customizable multilayer approach to genomic variant prioritization and interpretation.Semantic proximity Read ↗

<i>VAREANT</i>: a bioinformatics application for gene variant reduction and annotationSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.