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10.1186/s13073-017-0456-7

http://scihub22266oqcxt.onion/10.1186/s13073-017-0456-7
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suck abstract from ncbi


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pmid28720120
      Genome+Med 2017 ; 9 (1 ): 65
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  • Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing #MMPMID28720120
  • Liu Q ; Zhang P ; Wang D ; Gu W ; Wang K
  • Genome Med 2017[Jul]; 9 (1 ): 65 PMID28720120 show ga
  • 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.
  • |*Algorithms [MESH]
  • |*Trinucleotide Repeats [MESH]
  • |High-Throughput Nucleotide Sequencing/*methods [MESH]
  • |Humans [MESH]


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