SV-STAT accurately detects structural variation via alignment to reference-based assemblies.

Caleb F DavisDeborah I RitterDavid A WheelerHongmei WangYan DingShannon P DuganMatthew N BainbridgeDonna M MuznyPulivarthi H RaoTsz-Kwong ManSharon E PlonRichard A GibbsChing C Lau

Published in: Source code for biology and medicine (2016)

SV-STAT works across multiple sequencing chemistries, paired and single-end technologies, targeted or whole-genome strategies, and it complements existing SV-detection software. The method is a significant advance towards accurate detection and genotyping of genomic rearrangements from DNA sequencing data.

Keyphrases

loop mediated isothermal amplification
single cell
cell proliferation
real time pcr
label free
high resolution
circulating tumor
genome wide
electronic health record
big data
data analysis
cell free
machine learning
dna methylation
gene expression
drug delivery
quantum dots
nucleic acid
genetic diversity