Article
Combining exome/genome sequencing with data repository analysis reveals novel gene-disease associations for a wide range of genetic disorders.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2021
Bertoli-Avella Aida M, Kandaswamy Krishna K, Khan Suliman, Ordonez-Herrera Natalia, Tripolszki Kornelia, Beetz Christian, Rocha Maria Eugenia, Urzi Alize, Hotakainen Ronja, Leubauer Anika, Al-Ali Ruslan, Karageorgou Vasiliki, Moldovan Oana, Dias Patrícia, Alhashem Amal, Tabarki Brahim, Albalwi Mohammed A, Alswaid Abdulrahman Faiz, Al-Hassnan Zuhair N, Alghamdi Malak Ali, Hadipour Zahra, Hadipour Fatemeh, Al Hashmi Nadia, Al-Gazali Lihadh, Cheema Huma, Zaki Maha S, Hüning Irina, Alfares Ahmed, Eyaid Wafaa, Al Mutairi Fuad, Alfadhel Majid, Alkuraya Fowzan S, Al-Sannaa Nouriya Abbas, AlShamsi Aisha M, Ameziane Najim, Rolfs Arndt, Bauer Peter
Abstract excerpt
PURPOSE: Within this study, we aimed to discover novel gene-disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). METHODS: We followed two approaches: (1) a patient-centered approach, which after routine diagnostic analysis systematically interrogates variants in genes not yet associated to human diseases; and (2) a gene variant centered approach. For the latter, we...
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