Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing.
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ABSTRACT:
SUBMITTER: Liu Q
PROVIDER: S-EPMC5514472 | biostudies-literature | 2017 Jul
REPOSITORIES: biostudies-literature
Publications
Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing.
Liu Qian Q Zhang Peng P Wang Depeng D Gu Weihong W Wang Kai K
Genome medicine 20170718 1
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 techn ...[more]
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