Genome-wide detection of short tandem repeat expansions by long-read sequencing.

Qian LiuYao TongKai Wang

Published in: BMC bioinformatics (2020)

In summary, RepeatHMM-DB can facilitate prioritization and identification of disease-relevant STRs from whole-genome long-read sequencing data on patients with undiagnosed diseases. RepeatHMM-DB is incorporated into RepeatHMM and is available at https://github.com/WGLab/RepeatHMM .

Keyphrases

genome wide
single cell
single molecule
dna methylation
electronic health record
loop mediated isothermal amplification
big data
label free
gene expression
machine learning
copy number
data analysis
bioinformatics analysis
affordable care act
artificial intelligence
quantum dots
deep learning