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Although the previous analysis was mainly concerned with testing the model's accuracy, and it relied on ground-truth IBD sharing extracted from the simulated genealogies, it is interesting to ask whether this approach can be used on genotype data.
Although some frequency spectrum-based tests can also be used on genotype data, for example Nielsen et al.'s CLR, the window size often has to be relatively large because information from many SNPs needs to be combined to get enough power.
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In in silico replication, we used imputed data of 4q25 region based on genotype data using Illumina Human610-Quad BeadChip in 23,032 samples from the BioBank Japan project at the Center for Integrative Medical Sciences, RIKEN.
We also investigate the accuracy of the competing approaches using simulated phenotypes based on genotype data from the NFBC.
The first question we addressed was whether or not candidate regions identified in genome scans for positive selection using LD-based tests on genotype data, such as that performed by the HapMap2 project, would show supporting evidence for selection when frequency spectrum-based neutrality tests were applied to re-sequencing data.
Linkage mapping was performed using JoinMap 4.0 [ 90] based on genotype data from the same 90 F2 individuals used in the segregation analysis (above).
We used the same quality control procedures on genotype data for all tested populations.
If we use HTreeQA, which is directly applied on genotype data, there are three groups based on the allele of each subject, { X11, …, X n 1 1 }, { X1 h, …, X n h h }, and { X10, …, X n 0 0 }.
Therefore, statistical software is used to estimate the haplotype frequencies in a population based on genotype data and LD.
Based on genotype data samples were checked for quality of genotyping based upon genotype call rate per sample, population outliers using Structure [32], [33] and Plink and for cryptic relatedness and gender discrepancies with Plink [30].
Population admixture across cohorts was performed using structure analysis on genotyping data from 40 unrelated SNPs [40].
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