NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

doi:10.1101/gr.152454.112

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Article

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.

Genome research - 1 Sept 2013

Dittwald Piotr, Gambin Tomasz, Szafranski Przemyslaw, Li Jian, Amato Stephen, Divon Michael Y, Rodríguez Rojas Lisa Ximena, Elton Lindsay E, Scott Daryl A, Schaaf Christian P, Torres-Martinez Wilfredo, Stevens Abby K, Rosenfeld Jill A, Agadi Satish, Francis David, Kang Sung-Hae L, Breman Amy, Lalani Seema R, Bacino Carlos A, Bi Weimin, Milosavljevic Aleksandar, Beaudet Arthur L, Patel Ankita, Shaw Chad A, Lupski James R, Gambin Anna, Cheung Sau Wai, Stankiewicz Pawel

Abstract excerpt

We delineated and analyzed directly oriented paralogous low-copy repeats (DP-LCRs) in the most recent version of the human haploid reference genome. The computationally defined DP-LCRs were cross-referenced with our chromosomal microarray analysis (CMA) database of 25,144 patients subjected to genome-wide assays. This computationally guided approach to the empirically derived large data set allowed us to...

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PMID: 23657883
DOI: 10.1101/gr.152454.112
PMCID: PMC3759717

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CHRNA7
NPHP1

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