Inferring disease risk genes from sequencing data in multiplex pedigrees through sharing of rare variants

Author:

Bureau Alexandre12ORCID,Begum Ferdouse3,Taub Margaret A.4,Hetmanski Jacqueline B.3,Parker Margaret M.5,Albacha-Hejazi Hasan6,Scott Alan F.7,Murray Jeffrey C.8,Marazita Mary L.9,Bailey-Wilson Joan E.10ORCID,Beaty Terri H.3,Ruczinski Ingo4

Affiliation:

1. Département de Médecine Sociale et Préventive; Université Laval; Québec City Québec Canada

2. Centre de recherche CERVO; Québec City Québec Canada

3. Department of Epidemiology; Johns Hopkins Bloomberg School of Public Health; Baltimore Maryland

4. Department of Biostatistics; Johns Hopkins Bloomberg School of Public Health; Baltimore Maryland

5. Channing Division of Network Medicine; Harvard Medical School; Boston Massachusetts

6. Prime Health Clinic  Jeddah; Riyadh Saudi Arabia

7. Institute of Genetic Medicine; Johns Hopkins Medical Institutions; Baltimore Maryland

8. Department of Pediatrics; School of Medicine, University of Iowa; Iowa City Iowa

9. Department of Oral Biology; School of Dental Medicine, University of Pittsburgh; Pittsburgh Pennsylvania

10. Inherited Disease Research Branch; National Human Genome Research Institute; Baltimore Maryland

Funder

Canadian Statistical Sciences Institute

National Institutes of Health

Center for Inherited Disease Research

NIH to Johns Hopkins University

Publisher

Wiley

Subject

Genetics (clinical),Epidemiology

Reference27 articles.

1. A global reference for human genetic variation;Auton;Nature,2015

2. Clinical features of ovarian cancer in Japanese women with germ-line mutations of brca1;Aida;Clinical Cancer Research: An Official Journal of the American Association for Cancer Research,1998

3. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nature Reviews Genetics,2011

4. Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts;Bureau;Genetics,2014

5. Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives;Bureau;Bioinformatics (Oxford, England),2014

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