Understanding mutational effects in digenic diseases

Author:

Gazzo Andrea123,Raimondi Daniele124,Daneels Dorien135,Moreau Yves6,Smits Guillaume178,Van Dooren Sonia135,Lenaerts Tom129

Affiliation:

1. Interuniversity Institute for Bioinformatics in Brussels, ULB-VUB, Boulevard du Triomphe CP 263, 1050 Brussels, Belgium

2. MLG, Université Libre de Bruxelles, Boulevard du Triomphe, CP 212, 1050 Brussels, Belgium

3. Center for Medical Genetics, Reproduction and Genetics, Reproduction Genetics and Regenerative Medicine, Vrije Universiteit Brussel, UZ Brussel, Laarbeeklaan 101, 1090 Brussels, Belgium

4. Structural Biology Brussels, Vrije Universiteit Brussel, 1050 Brussels, Belgium

5. Brussels Interuniversity Genomics High Throughput core (BRIGHTcore), VUB-ULB, Laarbeeklaan 101, 1090 Brussel

6. ESAT-STADIUS, KU Leuven, Kasteelpark Arenberg 10, 3001 Leuven, Belgium

7. Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Université Libre de Bruxelles, Brussels, Belgium

8. Center for Medical Genetics, Hôpital Erasme, Université Libre de Bruxelles, Route de Lennik 808, 1070 Brussels, Belgium

9. AI lab, Vrije Universiteit Brussel, Pleinlaan 2, 1050 Brussels, Belgium

Publisher

Oxford University Press (OUP)

Subject

Genetics

Reference47 articles.

1. An integrated map of genetic variation from 1,092 human genomes;1000 Genomes Project Consortium;Nature,2012

2. Human gene mutation database (HGMD®): 2003 update;Stenson;Hum. Mut.,2003

3. Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders;Hamosh;Nucleic Acids Res.,2005

4. The genetic basis of Mendelian phenotypes: discoveries, challenges, and opportunities;Chong;Am. J. Hum. Genet.,2015

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