Article

A cross-disorder dosage sensitivity map of the human genome

2021-01-28

Abstract excerpt

<h4>SUMMARY</h4> Rare deletions and duplications of genomic segments, collectively known as rare copy number variants (rCNVs), contribute to a broad spectrum of human diseases. To date, most disease-association studies of rCNVs have focused on recognized genomic disorders or on the impact of haploinsufficiency caused by deletions. By comparison, our understanding of duplications in disease remains rudimentary as v...

Topics

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

Identifiers and source

Literature Corpus work: fad83068-28af-573c-9edc-7a5421e39eb7
DOI: 10.1101/2021.01.26.21250098

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A cross-disorder dosage sensitivity map of the human genomeDOI 10.1101/2021.01.26.21250098Read

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

Dosage sensitivity is a major determinant of human copy number variant pathogenicity.Semantic proximity Read

Mapping and characterization of structural variation in 17,795 deeply sequenced human genomesSemantic proximity Read

Large multiallelic copy number variations in humans.Semantic proximity Read

Sensitivity to gene dosage and gene expression affects genes with copy number variants observed among neuropsychiatric diseases.Semantic proximity Read

Determinants of pleiotropy and monotonic gene dosage responses across human traitsSemantic proximity Read

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disordersSemantic proximity Read

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

Phenotypic variability and genetic susceptibility to genomic disorders.Semantic proximity Read

Determinants of pleiotropy and monotonic gene dosage responses across human traitsSemantic proximity Read

Gene discovery and functional assessment of rare copy-number variants in neurodevelopmental disorders.Semantic proximity Read

Copy number variants (CNV) interfere with human Accelerated Regions (HARs) to cause neurodevelopmental disorders: a large-scale cohort studySemantic proximity Read