학술논문
Combining exome/genome sequencing with data repository analysis reveals novel gene–disease associations for a wide range of genetic disorders
Document Type
Article
Author
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
Source
Genetics in Medicine; August 2021, Vol. 23 Issue: 8 p1551-1568, 18p
Subject
Language
ISSN
10983600; 15300366
Abstract
Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS).