RepeatHMM v2.0.3

:: DESCRIPTION

RepeatHMM is a novel computational tool to detect any microsatellites (including trinucleotide repeats in trinucleotide repeat disorders (TRD)) from given long reads for a subject of interests. It is able to accurately estimate estimate expansion counts according to the evaluation performance on both simulation data and real data.

::DEVELOPER

Wang Genomics Lab

:: SCREENSHOTS

N/A

:: REQUIREMENTS

• Linux
• Python

:: DOWNLOAD

RepeatHMM

:: MORE INFORMATION

Citation

Liu Q, Zhang P, Wang D, Gu W, Wang K.
Interrogating the “unsequenceable” genomic trinucleotide repeat disorders by long-read sequencing.
Genome Med. 2017 Jul 18;9(1):65. doi: 10.1186/s13073-017-0456-7. PMID: 28720120; PMCID: PMC5514472.