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.
journal_name
Genome Medjournal_title
Genome medicineauthors
Liu Q,Zhang P,Wang D,Gu W,Wang Kdoi
10.1186/s13073-017-0456-7subject
Has Abstractpub_date
2017-07-18 00:00:00pages
65issue
1issn
1756-994Xpii
10.1186/s13073-017-0456-7journal_volume
9pub_type
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