Skip to main content
Figure 2 | BMC Bioinformatics

Figure 2

From: A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

Figure 2

Determination of the RHS cutoff and the probability that the disease-causing gene is contained in RHSs. (A) The false negative rate (R false negative ) and the false positive rate (R false positive ) were calculated using equations 3 and 7 using the genotyping data for 5 α1-antitrypsin deficiency patients. The false negative rate shown is for a child from a first-cousin marriage (m + n = 6). (B) The probability that RHSs contain the disease gene (P GeneIsInRHS ) calculated for a child from a first-cousin marriage. The coefficient of consanguinity (F) used was 1/16, which was calculated according to Wright {Wright, S. Systems of Mating. V. General Considerations Genetics 1921: 6:167-178}. F can be more precisely calculated as the total length of RHSs divided by the total length of the autosomes for the actual calculation (equation 9). P GeneIsInRHS varies depending on the frequency of the gene in the population.

Back to article page