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CNVs

Chromosome 22 Copy Number Variants Linked to Traits in General Population

A phenome-wide association study and follow-up analyses found 17 continuous or binary traits that are associated with chromosome 22q11.2 CNVs.

Cleft Lip-Palate CNV Analysis Uncovers New Clefting Genes

Researchers profiled copy number variants in more than 1,100 individuals, identifying duplications or deletions in known disease genes and in new clefting gene candidates.

Complex Trait-Related CNVs Unearthed Using Haplotype-Informed Approach

Researchers tracked down 269 associations between complex traits and copy number variants uncovered with the help of haplotype-informed copy number variation analyses.

Autism-Linked Variants at Chromosome 16p Influence Nearby Gene Expression

The chromosome arm is home to an excess of common, polygenic influences on autism risk as well as a CNV linked to the disorder.

Early-Onset Psychosis Linked to Enhanced CNV Burden

Researchers profiled CNVs in early-onset psychosis cases, uncovering a rise in copy number variants, including variants previously linked to other conditions.

Aug 19, 2022

Retinoblastoma Study Reveals Pathogenesis Gene Downstream of Mutated RB1

Aug 11, 2022

Spatial Copy Number Variant Maps Shed Light on Clonal Cancer Development

Aug 10, 2022

UK Biobank Copy Number-Based GWAS Discovers New Associations With Human Traits

Jul 27, 2022

Researchers Develop Map of Protein-Coding Genes Sensitive to Dosage Changes

May 9, 2022

CNV-Adjusted Analysis Points to Prognostically Informative Meningioma Methylation Groups

Mar 2, 2022

Study Finds Copy Number Variant Ties to Complex Human Traits

Mar 18, 2021

Oncocyte Details New Expansions Plans With Growing Portfolio of Acquired Tests
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Jan 11, 2021

Mosaic Enhancer Mutations, CNVs Contribute to Risk of Developing Autism

Nov 18, 2020

CNV Analyses May Uncover Mendelian Conditions in Undiagnosed Pediatric Patients

Sep 17, 2020

Adrenal Neuroblastoma Cell Features Found by Single-Cell Transcriptome Sequencing

Sep 15, 2020

Pancreatic Cancer Treatment Clues Uncovered From Genomic, Chromatin Profiles

Jun 5, 2020

University of Utah Spinout Eigengene Developing Genome-Wide Signatures for Cancer Diagnostics
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May 27, 2020

WUSTL-led Team Compiles Human Structural Variant Resource

Apr 30, 2020

Treatment Clues Gleaned From Molecular Features in Rare Kidney Cancer Type

Mar 23, 2020

Lung Cancer Brain Metastasis Genomes Marked by Recurrent Amplifications, Deletions

Jan 31, 2020

Copy Number Variants May Influence Clinical Presentation Among Individuals with PTEN Mutations

Jan 16, 2020

Rare CNVs Associated With Major Disease Categories in Large Study of European Subjects

Jan 8, 2020

Novel Duplication Uncovered in Amish Individuals Explains Exercise-Associated Sudden Death

Nov 21, 2019

Extrachromosomal Oncogene Amplification Involves Rearrangement of Regulatory Elements

Nov 13, 2019

ACMG, ClinGen Publish Recommendations for Interpretation, Reporting of CNVs

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The Scan

Latent HIV Found in White Blood Cells of Individuals on Long-Term Treatments

Researchers in Nature Microbiology find HIV genetic material in monocyte white blood cells and in macrophages that differentiated from them in individuals on HIV-suppressive treatment.

Seagull Microbiome Altered by Microplastic Exposure

The overall diversity and the composition at gut microbiome sites appear to coincide with microplastic exposure and ingestion in two wild bird species, according to a new Nature Ecology and Evolution study.

Study Traces Bladder Cancer Risk Contributors in Organ Transplant Recipients

In eLife, genome and transcriptome sequencing reveal mutation signatures, recurrent somatic mutations, and risky virus sequences in bladder cancers occurring in transplant recipients.

Genes Linked to White-Tailed Jackrabbits' Winter Coat Color Change

Climate change, the researchers noted in Science, may lead to camouflage mismatch and increase predation of white-tailed jackrabbits.