Work

Additional file 1 of Using multi-scale genomics to associate poorly annotated genes with rare diseases

Year: 2024

Type: dataset

Abstract: Additional file 1: Table S1. Clinical and Genetic Characteristics of the 109-Patient Exome Dataset. Table S2. ClinVar-Simulated Genetic Variants and Associated Phenotypes. Table S3. Newly added disease-gene entries in the Human Phenotype Ontology (HPO) database.

Source: Figshare

DOI: 10.6084/m9.figshare.24946474

Authors: Canavati, Christina, Sherill-Rofe, Dana, Kamal, Lara, Bloch, Idit, Zahdeh, Fouad, Sharon, Elad, Terespolsky, Batel, Allan, Islam Abu, Rabie, Grace, Kawas, Mariana, Kassem, Hanin, Avraham, Karen B., Renbaum, Paul, Levy-Lahad, Ephrat, Kanaan, Moien, Tabach, Yuval

Institutions: Hebrew University of Jerusalem, Bikur Cholim Hospital, Bethlehem University, Tel Aviv University

Language: English

Topic: Genomics and Rare Diseases

Subfield: Genetics

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W4394069211

Cites: 56

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Related to: 10