Article
Concurrent triplication and uniparental isodisomy: evidence for microhomology-mediated break-induced replication model for genomic rearrangements.
European journal of human genetics : EJHG - 1 Jan 2015
Sahoo Trilochan, Wang Jia-Chi, Elnaggar Mohamed M, Sanchez-Lara Pedro, Ross Leslie P, Mahon Loretta W, Hafezi Katayoun, Deming Abigail, Hinman Lynne, Bruno Yovana, Bartley James A, Liehr Thomas, Anguiano Arturo, Jones Marilyn
Abstract excerpt
Whole-genome oligonucleotide single-nucleotide polymorphism (oligo-SNP) arrays enable simultaneous interrogation of copy number variations (CNVs), copy neutral regions of homozygosity (ROH) and uniparental disomy (UPD). Structural variation in the human genome contributes significantly to genetic variation, and often has deleterious effects leading to disease causation. Co-occurrence of CNV and regions of allelic...
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