Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing

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 coun...

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Bibliographic Details
Main Authors: Qian Liu, Peng Zhang, Depeng Wang, Weihong Gu, Kai Wang
Format: Article
Language:English
Published: BMC 2017-07-01
Series:Genome Medicine
Subjects:
Trinucleotide repeats
Trinucleotide repeat disorders
Microsatellites
RepeatHMM
PacBio
Nanopore
Online Access:http://link.springer.com/article/10.1186/s13073-017-0456-7

Internet

http://link.springer.com/article/10.1186/s13073-017-0456-7

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