Bioinformaticians from multiple disciplines, research groups and campuses collaborate to manage equipment-specific software, integrate data from numerous laboratory tools and apply modern analytic software pipelines. Their goal is to provide high quality genetic findings to treating physicians and their patients through Electronic Medical Records (EMRs).
Application of the equipment-specific software and data inform quality control decisions, and are used to monitor and improve laboratory techniques to produce only the highest quality sequencing data.
Modern analytic software pipelines, which include such programs as bwa, GATK and muTect are then applied to the high-quality NGS data to identify disease-related regions of interest within the genetic sample provided. Such findings are then passed to review boards, and the conclusions of these boards are incorporated into EMRs with the help of Syapse, a precision medicine data platform.