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

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 genom...

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Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2013
Matèries:
Research
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3759717/
https://ncbi.nlm.nih.gov/pubmed/23657883
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.152454.112
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