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

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Year: 2026
Type: preprint
Source: medRxiv
DOI: 10.64898/2026.11.07.26367371
Authors: 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, Dan Raved, Rachel Rock, Ben Pode-Shakked, Hagit Shani, Sagi Josefsberg, Tamar Harel, Hagar Mor
Institutions: Hadassah Medical Center, Hebrew University of Jerusalem, Tel Aviv University, Sheba Medical Center, Shaare Zedek Medical Center, Bikur Cholim Hospital, Assuta Medical Center, Edmond and Lily Safra Children's Hospital, Kaplan Medical Center
Language: English

Topic: Genomics and Rare Diseases
Subfield: Genetics
Field: Biochemistry, Genetics and Molecular Biology
Domain: Life Sciences

Open Access status: closed
OpenAlex ID: W7225613405
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