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

Large multiallelic copy number variations in humans.

Nature genetics - 1 Mar 2015

Handsaker Robert E, Van Doren Vanessa, Berman Jennifer R, Genovese Giulio, Kashin Seva, Boettger Linda M, McCarroll Steven A

Abstract excerpt

Thousands of genomic segments appear to be present in widely varying copy numbers in different human genomes. We developed ways to use increasingly abundant whole-genome sequence data to identify the copy numbers, alleles and haplotypes present at most large multiallelic CNVs (mCNVs). We analyzed 849 genomes sequenced by the 1000 Genomes Project to identify most large (>5-kb) mCNVs, including 3,878 duplications,...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to DNA Copy Number Variations
Share to Gene Dosage

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to HPR gene

Share to ORM1 gene

Share to Genome, Human

Share to Genome-Wide Association Study

Share to Haplotypes

Source

Open in PubMed Open full text

Identifiers

PMID: 25621458
DOI: 10.1038/ng.3200
PMCID: PMC4405206

Genes

HPR
ORM1

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Large multiallelic copy number variations in humans.PMID 25621458Read ↗

Global variation in copy number in the human genome.Semantic proximity Read ↗

Copy number variations in the human genome and strategies for analysis.Semantic proximity Read ↗

Copy number variation in human health, disease, and evolution.Semantic proximity Read ↗

Influences of rare copy number variation on human complex traitsSemantic proximity Read ↗

Diversity of human copy number variation and multicopy genes.Semantic proximity Read ↗

Mutational and selective effects on copy-number variants in the human genome.Semantic proximity Read ↗

Impact of copy number variations burden on coding genome in humans using integrated high resolution arrays.Semantic proximity Read ↗

Mapping copy number variation by population-scale genome sequencing.Semantic proximity Read ↗

Origins and functional impact of copy number variation in the human genome.Semantic proximity Read ↗

Copy-Number Variations, Noncoding Sequences, and Human PhenotypesSemantic proximity Read ↗

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

Influences of rare copy-number variation on human complex traits.Semantic proximity Read ↗

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