Strategies for selection of subjects for sequencing after detection of a linkage peak

BMC Proceedings

Table 1 Association analysis for C17S4578 comparing case subjects from 8 linked pedigrees to 202 original pedigree founders

Strategy	Case subjects (n)	Case genotype counts^a	Control subject genotype counts^a	Dominant model		Recessive model
				Effect size	Benefit-cost ratio	Effect size	Benefit-cost ratio
Strategies focused on age
A. Youngest haplotype-carrier case per pedigree	8	5/1/2	15/100/87	2.27	0.28	20.78^c	2.60
B. Youngest case per pedigree	8	4/4/0	15/100/87	12.1^b,c	1.51	12.47^c	1.56
Strategies focused on low-covariate status
C. All low-covariate haplotype-carrier case subjects	13	7/5/1	15/100/87	9.08^c	0.70	14.54^c	1.12
D. Families with 2+ low-covariate haplotype-carrier case subjects	9	4/4/1	15/100/87	6.05	0.67	9.97^c	1.11
E. All low-covariate case subjects	16	7/6/3	15/100/87	3.28	0.21	9.7^c	0.61
F. Lowest covariate case subject per pedigree	8	3/4/1	15/100/87	5.3	0.66	7.48^c	0.94
Other strategies
G. All haplotype-carrier case subjects per pedigree	40	10/21/9	15/100/87	2.61	0.07	4.16^c	0.10
H.All case subjects	81	10/40/31	15/100/87	1.22	0.02	1.76	0.02
I. Random case subject per pedigree	8	0/5/3	15/100/87	1.26	0.16	0	0.00

^a The three values are the counts for homozygote rare, heterozygote, and wild-type variants.
^b For cells with zero count, we added 0.5 to the cell to compute the odds ratio.
^cp < 0.05.

ISSN: 1753-6561