Article

Needlestack: an ultra-sensitive variant caller for multi-sample next generation sequencing data

2019-05-21

Abstract excerpt

<h4>ABSTRACT</h4> The emergence of Next-Generation Sequencing (NGS) has revolutionized the way of reaching a genome sequence, with the promise of potentially providing a comprehensive characterization of DNA variations. Nevertheless, detecting somatic mutations is still a difficult problem, in particular when trying to identify low abundance mutations such as subclonal mutations, tumour-derived alterations in bod...

Topics

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

Identifiers and source

Literature Corpus work: ace4ba66-522d-56d3-9060-9bbec65a9122
DOI: 10.1101/639377

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Needlestack: an ultra-sensitive variant caller for multi-sample next generation sequencing dataDOI 10.1101/639377Read

Identifying cancer mutation targets across thousands of samples: MuteProc, a high throughput mutation analysis pipeline.Semantic proximity Read

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

ClairS-TO: A deep-learning method for long-read tumor-only somatic small variant callingSemantic proximity Read

Accurate calling of low-frequency somatic mutations by sample-specific modeling of error ratesSemantic proximity Read

ClairS: a deep-learning method for long-read tumor-normal pair somatic small variant calling.Semantic proximity Read

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

Strelka2: Fast and accurate variant calling for clinical sequencing applicationsSemantic proximity Read

Using Machine Learning to Identify True Somatic Variants from Next-Generation SequencingSemantic proximity Read

Strelka2: fast and accurate calling of germline and somatic variants.Semantic proximity Read

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

DeepSSV: detecting somatic small variants in paired tumor and normal sequencing data with convolutional neural networkSemantic proximity Read

Detection of Somatic Mutations in Exome Sequencing of Tumor-only Samples.Semantic proximity Read