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

ABSTRACT:

Background

Tandem repeats comprise significant proportion of the human genome including coding and regulatory regions. They are highly prone to repeat number variation and nucleotide mutation due to their repetitive and unstable nature, making them a major source of genomic variation between individuals. Despite recent advances in high throughput sequencing, analysis of tandem repeats in the context of complex diseases is still hindered by technical limitations. We report a novel targeted sequencing approach, which allows simultaneous analysis of hundreds of repeats. 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. PCR sizing analysis w

SUBMITTER: Ganesamoorthy D 

PROVIDER: S-EPMC6048696 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature