Article

Polishing Copy Number Variant Calls on Exome Sequencing Data via Deep Learning

2020-05-10

Abstract excerpt

Accurate and efficient detection of copy number variants (CNVs) is of critical importance due to their significant association with complex genetic diseases. Although algorithms that use whole genome sequencing (WGS) data provide stable results with mostly-valid statistical assumptions, copy number detection on whole exome sequencing (WES) data shows comparatively lower accuracy. This is unfortunate as WES data is...

Topics

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

Identifiers and source

Literature Corpus work: 99c482e3-1c60-58da-8786-81dd3739981d
DOI: 10.1101/2020.05.09.086082

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Polishing Copy Number Variant Calls on Exome Sequencing Data via Deep LearningDOI 10.1101/2020.05.09.086082Read

ExactCN: Predicting Exact Copy Numbers on Whole Exome Sequencing DataSemantic proximity Read

Accurate <i>in silico</i> confirmation of rare copy number variant calls from exome sequencing data using transfer learningSemantic proximity Read

ECOLE: Learning to call copy number variants on whole exome sequencing dataSemantic proximity Read

CN-RNN: a Deep Learning Framework for Copy Number Variation Detection with Exome Sequencing DataSemantic proximity Read

GATK-gCNV: A Rare Copy Number Variant Discovery Algorithm and Its Application to Exome Sequencing in the UK BiobankSemantic proximity Read

A machine-learning approach for accurate detection of copy-number variants from exome sequencingSemantic proximity Read

CNVPipe: An enhanced pipeline for accurate analysis of copy number variation from whole-genome sequencingSemantic proximity Read

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

An enhanced method for targeted next generation sequencing copy number variant detection using ExomeDepthSemantic proximity Read

A Comparison of Tools for Copy-Number Variation Detection in Germline Whole Exome and Whole Genome Sequencing DataSemantic proximity Read

Benchmarking of Germline Copy Number Variant Callers from Whole Genome Sequencing Data for Clinical ApplicationsSemantic proximity Read

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV.Semantic proximity Read