Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing

Translocations are a common class of chromosomal aberrations and can cause disease by physically disrupting genes or altering their regulatory environment. Some translocations, apparently balanced at the microscopic level, include deletions, duplications, insertions, or inversions at the molecular l...

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Hlavní autoři: Sobreira, Nara L.M., Gnanakkan, Veena, Walsh, Michael, Marosy, Beth, Wohler, Elizabeth, Thomas, George, Hoover-Fong, Julie E., Hamosh, Ada, Wheelan, Sarah J., Valle, David
Médium: Artigo
Jazyk:Inglês
Vydáno: Cold Spring Harbor Laboratory Press 2011
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3202288/
https://ncbi.nlm.nih.gov/pubmed/21890680
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.122986.111
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