Whole Exome Sequencing (WES) Workflow

Detailed procedures for WES have been described previously [16 (link), 17 (link), 19 (link), 20 (link)]. In brief, whole blood samples were preserved using Paxgene DNA tubes (PreAnalytiX, Hombrechtikon, CH), and genomic DNA was extracted using the QIAamp system (Qiagen, Valencia, CA). Enriched exome libraries were captured using a variety of Agilent SureSelect systems according to the manufacturer’s instructions (Agilent, Santa Clara, CA). Final libraries were generated using Illumina TruSeq sample preparation kits and underwent 100 bp paired-end sequencing on a HiSeq 2500 (Illumina, San Diego, CA). Samples were sequenced to a median coverage of 98X in combined studies.

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Salfati E.L., Spencer E.G., Topol S.E., Muse E.D., Rueda M., Lucas J.R., Wagner G.N., Campman S., Topol E.J, & Torkamani A. (2019). Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases. Genome Medicine, 11, 83.

Publication 2019

Paxgene DNA tubes QIAamp system TruSeq sample preparation kits HiSeq 2500

Blood Exome Genomic

Corresponding Organization :

Other organizations : Scripps Research Institute, Dade County Medical Examiner Department, Scripps Clinic

Top 5 similar protocols

Variable analysis

independent variables

Whole blood sample preservation using Paxgene DNA tubes (PreAnalytiX, Hombrechtikon, CH)
Genomic DNA extraction using the QIAamp system (Qiagen, Valencia, CA)
Enriched exome library capture using a variety of Agilent SureSelect systems according to the manufacturer's instructions (Agilent, Santa Clara, CA)
Final library generation using Illumina TruSeq sample preparation kits
100 bp paired-end sequencing on a HiSeq 2500 (Illumina, San Diego, CA)

dependent variables

Median sequencing coverage of 98X in combined studies

control variables

Not explicitly mentioned

controls

Not explicitly mentioned

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