Next week (Oct 19-21), Station X will join more than 6,500 members of the human genetics community at the 66th Annual Meeting of the American Society of Human Genetics (ASHG) in Vancouver. ASHG is the largest human genetics meeting and exposition in the world and is a must-attend showcase for cutting-edge science in all areas of human genetics.
Station X is pleased to support the meeting this year from our base of operations in the exhibit hall (Booth #529). Our team will be meeting with customers and talking with attendees about our powerful cloud-based platform, GenePool. GenePool is the most modern and powerful genomics informatics platform for analysis, interpretation and clinical reporting – it brings an entire ecosystem of high-end data computing, storage, analytics, bioinformatics pipelines, visualizations, rich annotations, genomics assays, and phenotypic/clinical metadata to the fingertips of clinical and translational researchers.
We are also pleased to present a scientific poster in collaboration with the Clinic for Special Children (CSC) on Thursday, October 20th at 2:00pm - 3:00pm PST (PgmNr 1025/T). Erik Puffenberger, PhD, Laboratory Director, CSC highlights a validation study of whole-exome sequencing cases from the CSC, where they demonstrated the ability to efficiently identify putative causative variants using GenePool. Using the platform’s built-in analytical workflows for trio analysis and the pipelines designed for population-size cohort analyses they compared groups of affected and unaffected individuals. CSC used GenePool’s interactive visualization filters with the comprehensive library of annotations to quickly prioritize the list of potential causative variants to a small highly-relevant set and validated the results. GenePool allowed them to efficiently screen for pathogenic variants associated with autosomal recessive and de novo dominant phenotypes, as well as with more complex genetic diseases.
Rapid diagnosis is crucial to optimal patient outcomes, and GenePool is helping clinical research labs solve a critical part of this process by enabling the analysis and identification of a small set of putative pathogenic variants in a short time frame.
To learn more about GenePool, please stop by our booth at ASHG or email us at firstname.lastname@example.org.