Author

Rachel Rock

Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel. Metabolic Disease Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel- Hashomer, Israel.;

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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

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

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1 shared paperGenetic & Genomic Medicine

Ben Pode-Shakked

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintNov 9, 2026

A Framework for Variant Filtering to Improve Diagnostic Outcomes in Genome Sequencing

Rivka Birnbaum, Kamila Lee, Yaron Mazor…·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.

DOI 10.64898/2026.11.07.26367371

humanwhole-exome sequencing

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