Article

Accurate Reference-Free Somatic Variant-Calling by Integrating Genomic, Sequencing and Population Data

2018-08-02

Abstract excerpt

<h4>ABSTRACT</h4> The detection of somatic single nucleotide variants (SNVs) is critical in both research and clinical applications. Studies of human cancer typically use matched normal (reference) samples from a distant tissue to increase SNV prediction accuracy. This process both doubles sequencing costs and poses challenges when reference samples are not readily available, such as for many cell-lines. To addre...

Topics

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

Identifiers and source

Literature Corpus work: 3aebee6a-23ea-597f-a7b5-fb30e3a02697
DOI: 10.1101/383703

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Accurate Reference-Free Somatic Variant-Calling by Integrating Genomic, Sequencing and Population DataDOI 10.1101/383703Read

The human pangenome reference reduces ancestry-related biases in somatic mutation detectionSemantic proximity Read

ISOWN: accurate somatic mutation identification in the absence of normal tissue controls.Semantic proximity Read

The benefit of a complete reference genome for cancer structural variant analysisSemantic proximity Read

DeepSomatic: Accurate somatic small variant discovery for multiple sequencing technologiesSemantic proximity Read

Donor-specific assemblies enhance somatic structural variant detection in complex genomic regionsSemantic proximity Read

Evaluating somatic tumor mutation detection without matched normal samples.Semantic proximity Read

Discriminating somatic and germline mutations in tumor DNA samples without matching normals.Semantic proximity Read

Comprehensive benchmarking of somatic mutation detection by the SMaHT NetworkSemantic proximity Read

Landscape of human protein-coding somatic mutations across tissues and individualsSemantic proximity Read

SomaMutDB 2.0: A comprehensive database for exploring somatic mutations and their functional impact in normal human tissuesSemantic proximity Read

TNscope: Accurate Detection of Somatic Mutations with Haplotype-based Variant Candidate Detection and Machine Learning FilteringSemantic proximity Read

A somatic reference standard for cancer genome sequencing.Semantic proximity Read