Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.

Journal of medical genetics - 1 Nov 2018

Zhou Bo, Ho Steve S, Zhang Xianglong, Pattni Reenal, Haraksingh Rajini R, Urban Alexander E

Abstract excerpt

BACKGROUND: Copy number variation (CNV) analysis is an integral component of the study of human genomes in both research and clinical settings. Array-based CNV analysis is the current first-tier approach in clinical cytogenetics. Decreasing costs in high-throughput sequencing and cloud computing have opened doors for the development of sequencing-based CNV analysis pipelines with fast turnaround times. We carry...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Comparative Genomic Hybridization
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genome, Human

Share to Genomics

Share to Reference Standards

Share to Reproducibility of Results

Share to Sensitivity and Specificity

Share to Whole Genome Sequencing

Source

Open in PubMed Open full text

Identifiers

PMID: 30061371
DOI: 10.1136/jmedgenet-2018-105272
PMCID: PMC8131063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.PMID 30061371Read ↗

Whole-genome sequencing analysis of copy number variation (CNV) using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysisSemantic proximity Read ↗

A comparison of tools for copy-number variation detection in germline whole exome and whole genome sequencing dataSemantic proximity Read ↗

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

Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing dataSemantic proximity Read ↗

Comprehensive characterization of copy number variation (CNV) called from array, long- and short-read data.Semantic proximity Read ↗

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

SgD-CNV, a database for common and rare copy number variants in three Asian populations.Semantic proximity Read ↗

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

Copy number variant detection with low-coverage whole-genome sequencing is a viable alternative to the traditional array-CGHSemantic proximity Read ↗

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

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

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.