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

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohort

21 Feb 2025

Abstract excerpt

Exome sequencing is the current standard for diagnosing Mendelian disorders; however, it is generally not considered the first-line test for detecting copy number variants (CNVs). We retrospectively investigated the additional diagnostic yield by performing concurrent CNV analysis using exome data in a large and diverse pediatric cohort. Patients were referred from various sources with variable phenotypes. Human...

Read the complete abstract on PubMed

Topics

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

Share to Genetic factors in colorectal cancer
Share to Genomic variations and chromosomal abnormalities
Share to Genomics and Rare Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39984494
DOI: 10.1038/s41525-025-00478-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Copy number variant analysis improves diagnostic yield in a diverse pediatric exome sequencing cohortPMID 39984494Read ↗

High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics.Semantic proximity Read ↗

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.Semantic proximity Read ↗

Identification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.Semantic proximity Read ↗

Diagnostic Yield of Genome Sequencing Versus Exome Sequencing in Pediatric Patients With Rare Phenotypes: A Systematic Review and Meta-Analysis.Semantic proximity Read ↗

Copy Number Variant analysis by exome sequencing is an effective approach to optimize diagnostic yield for developmental disorders – the DDD-Africa studySemantic proximity Read ↗

Analysis of Copy Number Variants Is an Important Consideration in Exome Sequencing.Semantic proximity Read ↗

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.Semantic proximity Read ↗

Genome sequencing detects a wide range of clinically relevant copy-number variants and other genomic alterations.Semantic proximity Read ↗

Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysisSemantic proximity Read ↗

Diagnostic Utility of Trio–Exome Sequencing for Children With Neurodevelopmental DisordersSemantic proximity Read ↗

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 casesSemantic proximity Read ↗

Parallel Tests of Whole Exome Sequencing and Copy Number Variant Sequencing Increase the Diagnosis Yields of Rare Pediatric DisordersSemantic proximity Read ↗

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