Next Generation Genotyping (NGG) Using Riptide™. Performance Specifications when Best Practices are Applied

摘要

In this study, 384 genomic DNA samples were prepared as multiplex sequencing libraries using the Riptide™ high throughput library preparation kit and sequenced on four lanes of a Novaseq S4 flow cell with 2x 150 PE reads (96 samples per lane). Samples include 96 Japanese (JPT), 96 Yoruban (YRI) and 96 samples from the Wellderly Study (WELL). Data from the sequencer was demultiplexed using FGxTools and individual FastQ files uploaded to Gencove for VCF generation to provide the following WGS and Genotyping statistics on 38 million bi-allelic variants per sample.