Title |
Detecting non-allelic homologous recombination from high-throughput sequencing data
|
---|---|
Published in |
Genome Biology, April 2015
|
DOI | 10.1186/s13059-015-0633-1 |
Pubmed ID | |
Authors |
Matthew M Parks, Charles E Lawrence, Benjamin J Raphael |
Abstract |
Non-allelic homologous recombination (NAHR) is a common mechanism for generating genome rearrangements and is implicated in numerous genetic disorders, but its detection in high-throughput sequencing data poses a serious challenge. We present a probabilistic model of NAHR and demonstrate its ability to find NAHR in low coverage sequencing data from 44 individuals. We identify NAHR-mediated deletions or duplications in 109 of 324 potential NAHR loci in at least one of the individuals. These calls segregate by ancestry, are more common in closely spaced repeats, often result in duplicated genes or pseudogenes, and affect highly studied genes such as GBA and CYP2E1. |
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United Kingdom | 3 | 19% |
Germany | 1 | 6% |
India | 1 | 6% |
Unknown | 4 | 25% |
Demographic breakdown
Type | Count | As % |
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Scientists | 11 | 69% |
Members of the public | 4 | 25% |
Science communicators (journalists, bloggers, editors) | 1 | 6% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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United States | 1 | <1% |
France | 1 | <1% |
Unknown | 109 | 98% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 24 | 22% |
Student > Bachelor | 21 | 19% |
Researcher | 10 | 9% |
Student > Doctoral Student | 9 | 8% |
Student > Master | 9 | 8% |
Other | 16 | 14% |
Unknown | 22 | 20% |
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Agricultural and Biological Sciences | 27 | 24% |
Computer Science | 9 | 8% |
Medicine and Dentistry | 8 | 7% |
Mathematics | 1 | <1% |
Other | 2 | 2% |
Unknown | 24 | 22% |