Human Whole-Exome Sequencing (Cloudbreak™)

Cloudbreak™ chemistry was used to perform human whole-exome sequencing (WES) of reference genomic DNA (gDNA). 

Methods 

The Twist Library Preparation Enzymatic Fragmentation (EF) Kit 2.0 prepared precapture libraries from input of 50 ng NA12878. Eight replicates were simultaneously prepared with unique dual indexes (UDIs). 

The replicates were pooled equally and captured together using the Twist Exome 2.0 panel and Standard Hybridization v2 Protocol. The Adept™ Library Compatibility Kit v1.1 circularized the captured libraries for sequencing on the AVITI™ System with a 2 x 75 run. Bases2Fastq generated the FASTQ files.