Gene-based segregation method for identifying rare variants in family-based sequencing studies

Author:

Qiao Dandi1,Lange Christoph2,Laird Nan M.2,Won Sungho3,Hersh Craig P.14,Morrow Jarrett1,Hobbs Brian D.14,Lutz Sharon M.5,Ruczinski Ingo6,Beaty Terri H.7,Silverman Edwin K.14,Cho Michael H.148

Affiliation:

1. Channing Division of Network Medicine, Department of Medicine; Brigham and Women's Hospital and Harvard Medical School; Boston Massachusetts United States of America

2. Department of Biostatistics; Harvard T. H. Chan School of Public Health; Boston Massachusetts United States of America

3. Department of Public Health Science; Seoul National University; Seoul Republic of Korea

4. Division of Pulmonary and Critical Care Medicine, Department of Medicine; Brigham and Women's Hospital, Harvard Medical School; Boston Massachusetts United States of America

5. Department of Biostatistics, Anschutz Medical Campus; University of Colorado; Aurora Colorado United States of America

6. Department of Biostatistics; Johns Hopkins Bloomberg School of Public Health; Baltimore Maryland United States of America

7. Department of Epidemiology; Johns Hopkins Bloomberg School of Public Health; Baltimore Maryland United States of America

8. University of Washington Center for Mendelian Genomics; Seattle Washington United States of America

Funder

National Heart, Lung, and Blood Institute

Alpha-1 Foundation

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Epidemiology

Reference33 articles.

1. Clinical features of ovarian cancer in Japanese women with germ-line mutations of BRCA1;Aida;Clinical Cancer Research,1998

2. Statistical models for haplotype sharing in case-parent trio data;Allen;Human Heredity,2007

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

4. Exploring haplotype sharing methods in general and isolated populations to detect gene(s) of a complex genetic trait;Beckmann;Genetic Epidemiology,2001

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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