Article

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencing

2020-07-24

Abstract excerpt

<h4>ABSTRACT</h4> The detection of copy number variations (CNVs) in whole-exome sequencing (WES) data is important, as CNVs may underlie a number of human genetic disorders. The recently developed HMZDelFinder algorithm can detect rare homozygous and hemizygous (HMZ) deletions in WES data more effectively than other widely used tools. Here, we present HMZDelFinder_opt, an approach that outperforms HMZDelFinder fo...

Topics

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

Identifiers and source

Literature Corpus work: 17df049a-8b31-555f-978d-3c6c70aab332
DOI: 10.1101/2020.07.23.217976

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Detection of homozygous and hemizygous partial exon deletions by whole-exome sequencingDOI 10.1101/2020.07.23.217976Read

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortSemantic proximity Read

[Whole-genome sequencing and its application in the research and diagnoses of genetic diseases].Semantic proximity Read

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic DiseasesSemantic proximity Read

Systematic and comprehensive benchmarking of an exome sequencing based germline copy-number analysis pipeline to detect clinically relevant CNVsSemantic proximity Read

Unifying genetic testing: next-generation whole exome sequencing delivers comprehensive insights in a single testSemantic proximity Read

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesSemantic proximity Read

The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for researchSemantic proximity Read

Whole-Genome Sequencing is a Viable Replacement for Chromosomal Microarray and Fragile X PCR TestingSemantic proximity Read

Benchmark of tools for CNV detection from NGS panel data in a genetic diagnostics contextSemantic proximity Read

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variantsSemantic proximity Read

ClinCNV: multi-sample germline CNV detection in NGS dataSemantic proximity Read

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomesSemantic proximity Read