November 1, 2021
The Annual Symposium builds on more than 40 years of sharing research and insights for leveraging information to improve human health. The AMIA 2021 Annual Symposium showcases the latest innovations from the community of biomedical informatics researchers and practitioners.
Junior, Sachleen Tuteja, was one amongst 13 high school students nationwide that were selected to present their research. The conference hosted 1770 attendees (1,302 in-person and 468 virtual) in October 2021. Her poster titled “The Enigma of Clinical Next Generation Sequencing (NGS) based Genetic Testing – Variant Annotation Tools: A Performance Evaluation Study” was amongst nine conference presenters to be awarded the distinguished poster award. Sachleen’s poster description follows.
“Robust identification and annotation of genetic variants relevant for human germline disorders is foundational for clinical Next Generation Sequencing (NGS) assays. Using a manually curated set of 296 variants, we evaluated the performance of two variant annotation tools (Variant Effect Predictor and Alamut Batch) for implementation in our clinical bioinformatics pipeline. With respect to HGVS nomenclature standards, VEP produces more accurate variant annotations due to usage of updated gene transcript versions within the algorithm.”
Sachleen began her participation in the SIR Program in the Summer of 2021 as a rising junior and is continuing her work under the direction of Dr. Kai Lee Yap and Dr. Sabah Kadri at the Ann and Robert H. Lurie Children’s Outpatient Center in Chicago.
Browse the full program at: https://amia.org/education-events/amia-2021-annual-symposium