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

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.

Genome research - 1 Sept 2009

Mefford Heather C, Cooper Gregory M, Zerr Troy, Smith Joshua D, Baker Carl, Shafer Neil, Thorland Erik C, Skinner Cindy, Schwartz Charles E, Nickerson Deborah A, Eichler Evan E

Abstract excerpt

Copy-number variants (CNVs) are substantial contributors to human disease. A central challenge in CNV-disease association studies is to characterize the pathogenicity of rare and possibly incompletely penetrant events, which requires the accurate detection of rare CNVs in large numbers of individuals. Cost and throughput issues limit our ability to perform these studies. We have adapted the Illumina BeadXpress...

Read the complete abstract on PubMed

Topics

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

Share to Autistic Disorder
Share to Chromosomes, Human, Pair 15

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 16

Share to Cognition Disorders

Share to Gene Dosage

Share to Gene Duplication

Share to Intellectual Disability

Share to Prader-Willi Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 19506092
DOI: 10.1101/gr.094987.109
PMCID: PMC2752120

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease.PMID 19506092Read ↗

CNVs: harbingers of a rare variant revolution in psychiatric genetics.Semantic proximity Read ↗

Detecting large copy number variants using exome genotyping arrays in a large Swedish schizophrenia sample.Semantic proximity Read ↗

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.Semantic proximity Read ↗

Population analysis of large copy number variants and hotspots of human genetic disease.Semantic proximity Read ↗

Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations.Semantic proximity Read ↗

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.Semantic proximity Read ↗

Profiling copy number variation and disease associations from 50,726 DiscovEHR Study exomesSemantic proximity Read ↗

Refining analyses of copy number variation identifies specific genes associated with developmental delay.Semantic proximity Read ↗

A Survey of Copy Number Variants Associated with Neurodevelopmental Disorders in a Large-Scale, Multi-Ancestry BiobankSemantic proximity Read ↗

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.Semantic proximity Read ↗

Genome sequencing identifies major causes of severe intellectual disability.Semantic proximity Read ↗

A copy number variation morbidity map of developmental delay.Semantic proximity Read ↗

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