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

Clinical interpretation of copy number variants in the human genome.

Journal of applied genetics - 1 Nov 2017

Nowakowska Beata

Abstract excerpt

Molecular methods, by which copy number variants (CNVs) detection is available, have been gradually introduced into routine diagnostics over the last 15 years. Despite this, some CNVs continue to be a huge challenge when it comes to clinical interpretation. CNVs are an important source of normal and pathogenic variants, but, in many cases, their impact on human health depends on factors that are not yet known....

Read the complete abstract on PubMed

Topics

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

Share to DNA Copy Number Variations
Share to Genetic Predisposition to Disease
Share to Genome, Human

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genomic variations and chromosomal abnormalities

Share to Genomics and Rare Diseases

Share to Prenatal Screening and Diagnostics

Source

Open in PubMed Open full text

Identifiers

PMID: 28963714
DOI: 10.1007/s13353-017-0407-4
PMCID: PMC5655614

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical interpretation of copy number variants in the human genome.PMID 28963714Read ↗

DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspectsSemantic proximity Read ↗

The clinical context of copy number variation in the human genome.Semantic proximity Read ↗

Pathogenic or not? Assessing the clinical relevance of copy number variants.Semantic proximity Read ↗

Copy Number Variation.Semantic proximity Read ↗

Copy Number Variation Analysis.Semantic proximity Read ↗

French Guidelines of the AchroPuce Network for the Interpretation and Reporting of Constitutional Copy Number Variants.Semantic proximity Read ↗

Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concernsSemantic proximity Read ↗

Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics-Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory.Semantic proximity Read ↗

Structural variation in the human genome: the impact of copy number variants on clinical diagnosis.Semantic proximity Read ↗

What a difference copy number variation makes.Semantic proximity Read ↗

The impact of human copy number variation on a new era of genetic testingSemantic proximity Read ↗

Implications of gene copy-number variation in health and diseases.Semantic proximity Read ↗

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