Guoying Liu of Thermo Fisher Scientific answers questions about his poster that was presented the 2015 American Society of Human Genetics annual meeting.

Download the poster: [ Ссылка ]

Abstract
Ion AmpliSeq™ sequencing is one of the most promising applications of the Ion Torrent NGS platform. It involves multiplex PCR for target enrichment. Thermo Fisher offers online Ion AmpliSeq Designer to customers to assist assay designs. While more and more people are adopting Ion AmpliSeq technologies, challenges for assay designs started to emerge. Here we present bioinformatics approaches to improve the following areas of assay design: 1) assay specificity; 2) primer quality control; 3) SNP under primer; and 4) flexibility to adapt to different applications of Ion AmpliSeq sequencing including variant calling, copy number variation detection, RNA expression, gene fusion detection, and metagenomics. Design algorithms are developed to ensure high coverage with controlled risk of amplification efficiency, off-target reads and SNP effects. With the optimized design algorithm, numerous custom and community research panels have been created, including the Ion AmpliSeq Exome Panel, TP53 Panel, and CFTR Panel.

свернуть