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Rare copy-number variants as modulators of common disease susceptibility

Rare copy-number variants as modulators of common disease susceptibility

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_99204a983c254d6594fd32cb0289dd83

Rare copy-number variants as modulators of common disease susceptibility

About this item

Full title

Rare copy-number variants as modulators of common disease susceptibility

Publisher

England: BioMed Central Ltd

Journal title

Genome medicine, 2024-01, Vol.16 (1), p.5-24, Article 5

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Copy-number variations (CNVs) have been associated with rare and debilitating genomic disorders (GDs) but their impact on health later in life in the general population remains poorly described.
Assessing four modes of CNV action, we performed genome-wide association scans (GWASs) between the copy-number of CNV-proxy probes and 60 curated ICD-10...

Alternative Titles

Full title

Rare copy-number variants as modulators of common disease susceptibility

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_99204a983c254d6594fd32cb0289dd83

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_99204a983c254d6594fd32cb0289dd83

Other Identifiers

ISSN

1756-994X

E-ISSN

1756-994X

DOI

10.1186/s13073-023-01265-5

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