A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing
R. Birnbaum, K. Lee, Y. Mazor, Y. Unger, S. Yanovsky-Dagan, I. Grundwag, M. Chalk, N. Shaul-Lotan, L. Greenbaum, O. Freireich, T. Klopstock, T. Dror, M. Sebbagh, R. Beeri, O. Murik, , Hagar Mor
This paper introduces a variant filtering framework called SMART filtering to improve diagnostic outcomes in genome sequencing by prioritizing non-coding and regulatory variants.
medRxiv · Nov 9, 2026 · PreprintGenetic & Genomic Medicine