Ontology highlight
ABSTRACT:
SUBMITTER: Rimmer A
PROVIDER: S-EPMC4753679 | biostudies-literature | 2014 Aug
REPOSITORIES: biostudies-literature
Rimmer Andy A Phan Hang H Mathieson Iain I Iqbal Zamin Z Twigg Stephen R F SRF Wilkie Andrew O M AOM McVean Gil G Lunter Gerton G
Nature genetics 20140713 8
High-throughput DNA sequencing technology has transformed genetic research and is starting to make an impact on clinical practice. However, analyzing high-throughput sequencing data remains challenging, particularly in clinical settings where accuracy and turnaround times are critical. We present a new approach to this problem, implemented in a software package called Platypus. Platypus achieves high sensitivity and specificity for SNPs, indels and complex polymorphisms by using local de novo as ...[more]