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Article

Rapid identification of disease-causing mutations using copy number analysis within linkage intervals.

Human mutation - 1 Dec 2007

Bayrakli Fatih, Bilguvar Kaya, Mason Christopher E, DiLuna Michael L, Bayri Yasar, Gungor Levent, Terzi Murat, Mane Shrikant M, Lifton Richard P, State Matthew W, Gunel Murat

Abstract excerpt

SNP and comparative genome hybridization arrays (aCGH) are powerful techniques for identifying genome rearrangements, deletions, and duplications. We hypothesized that current array-based detection of copy number variation (CNV) could complement parametric linkage analysis and allow the rapid identification of functional mutations in families with inherited disorders. Herein, we demonstrate the utility of this...

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PMID: 17676595
DOI: 10.1002/humu.20592

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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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