Author

Itay Grundwag

Department of Genetics, Hadassah Medical Center, Jerusalem, Israel. Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel;

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

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Genetic & Genomic Medicine· 1

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Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Ben Pode-Shakked· 1 shared Dan Raved· 1 shared Hagar Mor· 1 shared Hagit Shani· 1 shared Kamila LeeiD· 1 shared Lior Greenbaum· 1 shared Meyrav Sebbagh· 1 shared Michal Chalk· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Ben Pode-Shakked

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1 paper

Recent·Most cited

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