Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
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ABSTRACT:
SUBMITTER: Highnam G
PROVIDER: S-EPMC3592458 | biostudies-other | 2013 Jan
REPOSITORIES: biostudies-other
Publications
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles.
Highnam Gareth G Franck Christopher C Martin Andy A Stephens Calvin C Puthige Ashwin A Mittelman David D
Nucleic acids research 20121022 1
Repetitive sequences are biologically and clinically important because they can influence traits and disease, but repeats are challenging to analyse using short-read sequencing technology. We present a tool for genotyping microsatellite repeats called RepeatSeq, which uses Bayesian model selection guided by an empirically derived error model that incorporates sequence and read properties. Next, we apply RepeatSeq to high-coverage genomes from the 1000 Genomes Project to evaluate performance and ...[more]
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