title: Whole Exome sequencing of homo sapiens: Sample NEXT.815295Y.15-10536.2-92071
design: 1) Sample receipt & accessioning: All biological samples received for nucleic acid extraction are evaluated for quality and accessioned into the laboratory information management system (LIMS; CoreLims). All metadata associated with processing is captured by the LIMS for documentation and tracking purposes. 2) DNA extraction: DNA is extracted from biological samples (blood, saliva, and other tissues) using a QiaSymphony or QiaCube liquid handling robot (Qiagen, Valencia, CA).  Quality and quantity of DNA are assessed prior to library construction.  All DNA samples are fingerprinted with an Infinium QC array (Illumina) for tracking and sequence quality assessment. 3) Library construction: Fragment libraries are constructed using the KAPA Biosystems HyperPrep protocol which is highly optimized for library insert size with minimal amplification to maintain library complexity and on-target capture success. Sample manipulations, from library construction through exome enrichment are performed by a liquid-handling robot (SciClone, Perkin-Elmer). 4) Exome enrichment: Libraries are enriched using the Integrated DNA Technologies xGen v1.0 capture system (IDT, Coralville, IA). The target includes all coding content from the RefSeq database. 5) Sequencing: Sequencing of enriched libraries is carried out using Illumina HiSeq sequencers (4000 or 2500) with current TruSeq chemistry. 