Article

CanVar: A resource for sharing germline variation in cancer patients

2016-12-05

Abstract excerpt

The advent of high-throughput sequencing has accelerated our ability to discover genes predisposing to disease and is transforming clinical genomic sequencing. In both contexts knowledge of the spectrum and frequency of genetic variation in the general population and in disease cohorts is vital to the interpretation of sequencing data. While population level data is becoming increasingly available from publicly ac...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 44e4cb44-c47a-5039-b634-4bfe7e95064d
DOI: 10.12688/f1000research.10058.1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

CanVar: A resource for sharing germline variation in cancer patientsDOI 10.12688/f1000research.10058.1Read

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

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

COSMIC: a curated database of somatic variants and clinical data for cancer.Semantic proximity Read

Exome-wide association studies discover germline mutation patterns and identify high-risk populations in human cancersSemantic proximity Read

Genetic Analysis of Functional Rare Germline Variants across Nine Cancer Types from an Electronic Health Record Linked Biobank.Semantic proximity Read

FAVR (Filtering and Annotation of Variants that are Rare): methods to facilitate the analysis of rare germline genetic variants from massively parallel sequencing datasets.Semantic proximity Read

Substantial Batch Effects in TCGA Exome Sequences Undermine Pan-Cancer Analysis of Germline VariantsSemantic proximity Read

Predicting Cancer Risk from Germline Whole-exome Sequencing Data Using a Novel Context-based Variant Aggregation Approach.Semantic proximity Read

Identification of novel variants in colorectal cancer families by high-throughput exome sequencing.Semantic proximity Read

Somatic mutations and germline sequence variants in patients with familial colorectal cancer.Semantic proximity Read

An integrative variant analysis suite for whole exome next-generation sequencing data.Semantic proximity Read

CanProVar: a human cancer proteome variation database.Semantic proximity Read