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Curr Protoc Hum Genet. 2018 Apr;97(1):e56. doi: 10.1002/cphg.56.

Pedigree Selection and Information Content.

Author information

1
The Taub Institute for Research on Alzheimer's Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York.
2
The Gertrude H. Sergievsky Center, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York.
3
The Department of Neurology, College of Physicians and Surgeons, Columbia University, The New York Presbyterian Hospital, New York.
4
The John P. Hussman Institute for Human Genomics and Dr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, Florida.
5
Department of Biostatistics and Epidemiology, Case Western Reserve University, Cleveland, Ohio.

Abstract

In this article, we discuss strategies for selection of families and family members for genetic studies. We will evaluate strategies to sample large families with multiply affected members, sibships, and nuclear families. In addition, we have added a section to discuss sub-sampling within pedigrees for large sequencing studies, particularly when genome-wide SNP chips are available on all members of a pedigree. The type of family sampled for a study will determine the statistical analyses and power of discovery of genetic findings. We will evaluate study designs that maximize power and allow for linkage and association analyses to identify genetic loci predisposing to phenotype.

KEYWORDS:

Family-based genetic studies; genome-wide association; linkage; next-generation sequencing

PMID:
30040223
DOI:
10.1002/cphg.56

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