Title |
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing
|
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Published in |
Genome Medicine, July 2017
|
DOI | 10.1186/s13073-017-0456-7 |
Pubmed ID | |
Authors |
Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu, Kai Wang |
Abstract |
Microsatellite expansion, such as trinucleotide repeat expansion (TRE), is known to cause a number of genetic diseases. Sanger sequencing and next-generation short-read sequencing are unable to interrogate TRE reliably. We developed a novel algorithm called RepeatHMM to estimate repeat counts from long-read sequencing data. Evaluation on simulation data, real amplicon sequencing data on two repeat expansion disorders, and whole-genome sequencing data generated by PacBio and Oxford Nanopore technologies showed superior performance over competing approaches. We concluded that long-read sequencing coupled with RepeatHMM can estimate repeat counts on microsatellites and can interrogate the "unsequenceable" genomic trinucleotide repeat disorders. |
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United States | 2 | 40% |
Germany | 1 | 20% |
Russia | 1 | 20% |
United Kingdom | 1 | 20% |
Demographic breakdown
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Scientists | 5 | 100% |
Mendeley readers
Geographical breakdown
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Unknown | 151 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Ph. D. Student | 28 | 19% |
Researcher | 23 | 15% |
Student > Master | 15 | 10% |
Student > Bachelor | 14 | 9% |
Student > Doctoral Student | 9 | 6% |
Other | 26 | 17% |
Unknown | 36 | 24% |
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Agricultural and Biological Sciences | 28 | 19% |
Medicine and Dentistry | 11 | 7% |
Neuroscience | 5 | 3% |
Computer Science | 5 | 3% |
Other | 10 | 7% |
Unknown | 41 | 27% |