Article

Var|Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data

2022-09-03

Abstract excerpt

<h4>Motivation</h4> High throughput sequencing (HTS) offers unprecedented opportunities for the discovery of causative gene variants in multiple human disorders including cancers, and has revolutionized clinical diagnostics. However, despite more than a decade of use of HTS-based assays, extracting relevant functional information from whole exome sequencing (WES) data remains challenging, especially for non-speci...

Topics

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

Identifiers and source

Literature Corpus work: d853528a-3a97-5030-83a9-a5ed89847214
DOI: 10.1101/2022.09.02.506346

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Var|Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing dataDOI 10.1101/2022.09.02.506346Read

VarXOmics: A Versatile Web Server for Genomic Data Querying, Analysis, and Variant Prioritization With Multi-omics Insights.Semantic proximity Read

iWhale: a computational pipeline based on Docker and SCons for detection and annotation of somatic variants in cancer WES data.Semantic proximity Read

Azurify integrates cancer genomics with machine learning to classify the clinical significance of somatic variantsSemantic proximity Read

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.Semantic proximity Read

Genomize-SEQ: An NGS data analysis platform for genomic variant classification and prioritizationSemantic proximity Read

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

Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML.Semantic proximity Read

SMART: A Somatic Mutation Annotation and Reporting Tool for cancer genomicsSemantic proximity Read

Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint.Semantic proximity Read

Hemap: An Interactive Online Resource for Characterizing Molecular Phenotypes across Hematologic MalignanciesSemantic proximity Read

Detection and benchmarking of somatic mutations in cancer genomes using RNA-seq dataSemantic proximity Read

CanCellVar: A database for single-cell variants map in human cancer.Semantic proximity Read