Article

FPfilter: A false-positive-specific filter for whole-genome sequencing variant calling from GATK

2020-03-25

Abstract excerpt

1. <h4>Motivation</h4> As whole genome sequencing (WGS) is becoming cost-effective progressivelly, it has been applied increasingly in medical and scientific fields. Although the traditional variant-calling pipeline (BWA+GATK) has very high accuracy, false positives (FPs) are still an unavoidable problem that might lead to unfavorable outcomes, especially in clinical applications. As a result, filtering out FPs i...

Topics

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

Identifiers and source

Literature Corpus work: 6f0c1b2b-f3a2-5977-b258-9932f018b002
DOI: 10.1101/2020.03.23.003525

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

FPfilter: A false-positive-specific filter for whole-genome sequencing variant calling from GATKDOI 10.1101/2020.03.23.003525Read

FVC as an adaptive and accurate method for filtering variants from popular NGS analysis pipelines.Semantic proximity Read

VariFAST: a variant filter by automated scoring based on tagged-signatures.Semantic proximity Read

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.Semantic proximity Read

Fast and accurate DNASeq Variant Calling workflow composed of LUSH toolkitSemantic proximity Read

GATK hard filtering: tunable parameters to improve variant calling for next generation sequencing targeted gene panel data.Semantic proximity Read

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGSSemantic proximity Read

GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS.Semantic proximity Read

Accuracy and efficiency of germline variant calling pipelines for human genome dataSemantic proximity Read

VEF: a Variant Filtering tool based on Ensemble methodsSemantic proximity Read

GVC: An ultra-fast and all-round genome variant callerSemantic proximity Read

PanVariants: Best Practice for Pangenome-based Variant Calling Pipeline and FrameworkSemantic proximity Read

FINDEL: A Deep Learning Approach to Efficient Artifact Removal From Cancer GenomesSemantic proximity Read