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Article

UPD detection using homozygosity profiling with a SNP genotyping microarray.

American journal of medical genetics. Part A - 1 Apr 2011

Papenhausen Peter, Schwartz Stuart, Risheg Hiba, Keitges Elisabeth, Gadi Inder, Burnside Rachel D, Jaswaney Vikram, Pappas John, Pasion Romela, Friedman Kenneth, Tepperberg James

Abstract excerpt

Single nucleotide polymorphism (SNP) based chromosome microarrays provide both a high-density whole genome analysis of copy number and genotype. In the past 21 months we have analyzed over 13,000 samples primarily referred for developmental delay using the Affymetrix SNP/CN 6.0 version array platform. In addition to copy number, we have focused on the relative distribution of allele homozygosity (HZ) throughout...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21594998
DOI: 10.1002/ajmg.a.33939

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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