GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.BACKGROUND
 We developed a Bayesian algorithm, namely - GtTR - which combines information from a reference long-read dataset with a short read counting approach to genotype tandem repeats at population scale.  Using this reference dataset GtTR generated estimates of VNTR copy number with accuracy within 95% high posterior density (HPD) intervals of 68 and 83% for capture sequence data and 200X WGS data respectively, improving to 87 and 94% with use of a PCR reference. 
GtTR
GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.BACKGROUND

Bayesian estimation
GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.BACKGROUND

sequence capture
GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing.BACKGROUND
 Despite recent advances in high throughput sequencing, analysis of tandem repeats in the context of complex diseases is still hindered by technical limitations. 
high throughput sequencing
We used a PacBio long-read sequenced sample to generate a reference tandem repeat genotype dataset with on average 13% absolute deviation from PCR sizing results. 
PacBio long-read sequenced sample
PCR sizing analysis was used for validation.


 We validated nine targets by PCR sizing analysis and genotype estimates from sequencing results correlated well with PCR results.



PCR sizing analysis