Article

Kevlar: a mapping-free framework for accurate discovery of <i>de novo</i> variants

2019-02-13

Abstract excerpt

<h4>Motivation</h4> Discovery of genetic variants by whole genome sequencing has proven a powerful approach to study the etiology of complex genetic disorders. Elucidation of all variants is a necessary step in identifying causative variants and disease genes. In particular, there is an increased interest in detection of de novo variation and investigation of its role in various disorders. State-of-the-art metho...

Topics

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

Identifiers and source

Literature Corpus work: ed480ddb-2163-5480-8a47-717cf6d70c1c
DOI: 10.1101/549154

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Kevlar: a mapping-free framework for accurate discovery of <i>de novo</i> variantsDOI 10.1101/549154Read

Nebula: ultra-efficient mapping-free structural variant genotyper.Semantic proximity Read

2-kupl: mapping-free variant detection from DNA-seq data of matched samplesSemantic proximity Read

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.Semantic proximity Read

KATK: fast genotyping of rare variants directly from unmapped sequencing readsSemantic proximity Read

A framework for the detection of de novo mutations in family-based sequencing data.Semantic proximity Read

<i>De novo</i> assembly of two Swedish genomes reveals missing segments from the human GRCh38 reference and improves variant calling of population-scale sequencing dataSemantic proximity Read

ABRA: improved coding indel detection via assembly-based realignment.Semantic proximity Read

Merfin: improved variant filtering and polishing via k-mer validationSemantic proximity Read

Aquila: diploid personal genome assembly and comprehensive variant detection based on linked readsSemantic proximity Read

Indel variant analysis of short-read sequencing data with ScalpelSemantic proximity Read

Accurate de novo and transmitted indel detection in exome-capture data using microassembly.Semantic proximity Read

Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads.Semantic proximity Read