A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing
Rivka Birnbaum, Kamila Lee, Yaron Mazor, Yaara Unger, Shira Yanovsky-Dagan, Itay Grundwag, Michal Chalk, Nava Shaul-Lotan, Lior Greenbaum, Orit Freireich, Tehila Klopstock, Tal Dror, Meyrav Sebbagh, Rachel Beeri, Omer 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