Article

Medical consequences of pathogenic CNVs in adults: Analysis of the UK Biobank

2018-02-15

Abstract excerpt

<h4>Background</h4> Genomic copy number variants (CNVs) increase risk for early-onset neurodevelopmental disorders but their impact on medical outcomes in later life is poorly understood. The UK Biobank, with half a million well-phenotyped adults, presents an opportunity to study the medical consequences of CNV in middle and old age. <h4>Methods</h4> We called 54 CNVs associated with clinical phenotypes or genom...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: e452b4ca-f64d-5aa6-992f-89cb09ec5e24
DOI: 10.1101/264077

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Medical consequences of pathogenic CNVs in adults: Analysis of the UK BiobankDOI 10.1101/264077Read

Effects of pathogenic CNVs on physical traits in participants of the UK BiobankSemantic proximity Read

Effects of pathogenic CNVs on biochemical markers: a study on the UK BiobankSemantic proximity Read

The rate of de novo CNVs in healthy controlsSemantic proximity Read

Copy-number variants as modulators of common disease susceptibilitySemantic proximity Read

The individual and global impact of copy number variants on complex human traitsSemantic proximity Read

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

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK BiobankSemantic proximity Read

The individual and global impact of copy-number variants on complex human traits.Semantic proximity Read

CNVs and genetic medicine (excitement and consequences of a rediscovery).Semantic proximity Read

A phenome-wide association study of CNVs genotyped from genome sequencing read depth in the UK Biobank.Semantic proximity Read

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

Large Copy-Number Variants in UK Biobank Caused by Clonal Hematopoiesis May Confound Penetrance Estimates.Semantic proximity Read