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

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2016

Wang Jing, Yu Hui, Zhang Victor Wei, Tian Xia, Feng Yanming, Wang Guoli, Gorman Elizabeth, Wang Hao, Lutz Richard E, Schmitt Eric S, Peacock Sandra, Wong Lee-Jun

Abstract excerpt

PURPOSE: Next-generation sequencing (NGS) has been widely applied to clinical diagnosis. Target-gene capture followed by deep sequencing provides unbiased enrichment of the target sequences, which not only accurately detects single-nucleotide variations (SNVs) and small insertion/deletions (indels) but also provides the opportunity for the identification of exonic copy-number variants (CNVs) and large genomic...

Read the complete abstract on PubMed

Topics

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

Share to Algorithms
Share to DNA Copy Number Variations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Diseases, Inborn

Share to High-Throughput Nucleotide Sequencing

Share to Homozygote

Share to INDEL Mutation

Share to Sequence Deletion

Source

Identifiers

PMID: 26402642
DOI: 10.1038/gim.2015.121

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.PMID 26402642Read ↗

High Detection Rate of Copy Number Variations Using Capture Sequencing Data: A Retrospective StudySemantic proximity Read ↗

Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.Semantic proximity Read ↗

CoNVaDING: Single Exon Variation Detection in Targeted NGS Data.Semantic proximity Read ↗

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

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

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

Targeted Next-Generation Sequencing for Clinical Diagnosis of 561 Mendelian Diseases.Semantic proximity Read ↗

Targeted Next-Generation Sequencing in Rare Diseases.Semantic proximity Read ↗

Targeted sequencing of both DNA strands barcoded and captured individually by RNA probes to identify genome-wide ultra-rare mutations.Semantic proximity Read ↗

Improved molecular diagnosis by the detection of exonic deletions with target gene capture and deep sequencing.Semantic proximity Read ↗

A unified DNA‐ and RNA‐based NGS strategy for the analysis of multiple types of variants at the dual nucleic acid level in solid tumorsSemantic proximity Read ↗

Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoNSemantic proximity Read ↗

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