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Article

Clinical interpretation of CNVs with cross-species phenotype data.

Journal of medical genetics - 1 Nov 2014

Köhler Sebastian, Schoeneberg Uwe, Czeschik Johanna Christina, Doelken Sandra C, Hehir-Kwa Jayne Y, Ibn-Salem Jonas, Mungall Christopher J, Smedley Damian, Haendel Melissa A, Robinson Peter N

Abstract excerpt

BACKGROUND: Clinical evaluation of CNVs identified via techniques such as array comparative genome hybridisation (aCGH) involves the inspection of lists of known and unknown duplications and deletions with the goal of distinguishing pathogenic from benign CNVs. A key step in this process is the comparison of the individual's phenotypic abnormalities with those associated with Mendelian disorders of the genes...

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Identifiers

PMID: 25280750
DOI: 10.1136/jmedgenet-2014-102633
PMCID: PMC4501634

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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