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Article

Density matters: comparison of array platforms for detection of copy-number variation and copy-neutral abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2013

Mason-Suares Heather, Kim Wayne, Grimmett Leslie, Williams Eli S, Horner Vanessa L, Kunig Dawn, Goldlust Ian S, Wu Bai-Lin, Shen Yiping, Miller David T, Martin Christa L, Rudd M Katharine

Abstract excerpt

PURPOSE: A combination of oligonucleotide and single-nucleotide polymorphism probes on the same array platform can detect copy-number abnormalities and copy-neutral aberrations such as uniparental disomy and long stretches of homozygosity. The single-nucleotide polymorphism probe density in commercially available platforms varies widely, which may affect the detection of copy-neutral abnormalities. METHODS: We...

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PMID: 23558256
DOI: 10.1038/gim.2013.36

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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