Dear All,
We are pleased to announce that Dr. Esti Yeger-Lotem will be the guest speaker of our upcoming virtual Sven Furberg Seminar in Bioinformatics and Statistical Genomics on Thursday Nov. 19th at 14:30 through Zoom (see Zoom info below and at https://www.mn.uio.no/sbi/english/furberg-seminars/dr.-esti-yeger-lotem.html).
Dr. Esti Yeger-Lotem, Associate Professor, Department of Clinical Biochemistry & Pharmacology, Ben-Gurion University of the Negev, Israel, will present the lecture "Elucidating disease mechanisms via their tissue-selectivity."
Abstract:
Genetic studies of Mendelian and rare diseases face the critical challenges of identifying pathogenic gene variants and their modes-of-action. Previous efforts rarely utilized the tissue-selective manifestation of these diseases for their elucidation. Here we introduce an interpretable machine learning (ML) platform that utilizes heterogeneous large-scale tissue-aware datasets of human genes, and rigorously, quantitatively and concurrently assesses hundreds of candidate mechanisms per gene. Application of our tissue-aware ML platform to Mendelian disease genes enabled to pinpoint known and previously-underappreciated factors that contributed to disease manifestations. Next, we extended our ML platform toward genetic diagnosis of rare diseases with tissue-selective manifestations. When applied to genetic data from 50 patients, patient-specific ML models successfully prioritized the pathogenic gene. Lastly, analyses of tissue-selective complex traits resulted in trends resembling those observed for Mendelian diseases. Thus, interpretable tissue-aware ML models can boost genetic diagnosis and mechanistic understanding of tissue-selective heritable diseases and complex traits.
More information at https://www.mn.uio.no/sbi/english/furberg-seminars/dr.-esti-yeger-lotem.html.
Looking forward to seeing you all at the seminar.
Best
Manuela & Anthony
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