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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.