Linkage analysis results for the family with progressive retinal degenerative disorders.

<p>(a) Whole genome scan 2-point linkage result. (b) Multipoint linkage result on chromosome 3.</p

The error possibilities calculated using genotyping error simulation method in screening known causative genes PKD1 and PKD2 for a family with renal failure with the genotype data of patient s1 and s4.

<p>The error possibilities calculated using genotyping error simulation method in screening known causative genes PKD1 and PKD2 for a family with renal failure with the genotype data of patient s1 and s4.</p

The pedigree of a family with a progressive retinal degenerative disorder.

<p>Genotyped individuals are indicated with red circles (affected) and blue circles (unaffected).</p

Histogram distribution of the dhSNPs introduced by genotyping error.

<p>Error simulation was performed on the genotype data of Myoclonus dystonia patients in region Chr11:111,851,211–113,785,527 including DRD2 gene. The curve is the fitted Poisson distribution curve with λ = 8.98 (σ = 0.03). Genotyping error was simulated using error model 1 with an error ratio 0.01. Monte Carlo error simulation was run 10,000 times.</p

Identification of the candidate regions for the family with Schnyder crystalline corneal dystrophy using HH approach.

<p>(a) RCHHs shared by 10 patients. The RCHH intervals are shown in black. Other autosomal regions are shown in grey as background. (b) RCHHs shared by 1351 and 1425. (c) RCHHs shared by 1351, 1425, and 1438. (d) RCHH shared by 1351, 1425, 1438, and 1349.</p

Screening of the three known causative genes DRD2, DYT1, and SGCE for a Canadian family with myoclonus dystonia using HH approach and the genotypes of four patients.

<p>Screening of the three known causative genes DRD2, DYT1, and SGCE for a Canadian family with myoclonus dystonia using HH approach and the genotypes of four patients.</p

Using HH method to identify the candidate regions with both cases and controls for the family with progressive retinal degenerative disorders.

<p>(a) RCHH mapping using the 300K SNP genotypes of eight affected individuals 312, 317, 318, 326, 329, 335, 349, and 360. The RCHH intervals are shown in black. Other parts of autosomes are shown in grey as background. (b) Densitogram of −log₁₀^(P) value for the representative RCHHs shared by patients with the unaffected individuals as controls. The darker the color, the more significant the RCHH is. HH analysis was run using affected family members as cases, unaffected family members as controls. The subjects used to build the patient pool were 312, 317, 318, 326, 329, 334, 335, 342, 348, 349, 358, 359, and 360, in which 334 and 358 were subsequently re-diagnosed as suspicious unaffected. Samples in control pool were 276, 277, 309, 310, 314, 315, 328, 330, 331, 332, 333, 336, 344, 352, 353, 355, 356, 357, and 362.</p

The effect of using subsets of the affected individuals (s1, s2, s3 and s4) and different cutoff values in the screening of the known causative genes PKD1 and PKD2 for a family with renal failure.

<p>‘+’ indicates no RCHH shared by patients is found flanking the gene, and suggests the gene is excludable; ‘−’ indicates an RCHH is found flanking the gene. <i>m</i> and <i>n</i> are the number of generations of the two patients descended from their common ancestor.</p

The error possibilities calculated using genotyping error simulation method in the screening of the known causative genes for a family with myoclonus dystonia with the genotype data of four affected individuals.

<p>The error possibilities calculated using genotyping error simulation method in the screening of the known causative genes for a family with myoclonus dystonia with the genotype data of four affected individuals.</p

Regions with LOD>0.5 from parametric linkage analyses using Merlin when individual 2447 is treated as unknown (sub-pedigree).

<p>Genomic intervals and associated LOD scores are shown under dominant models with 50% or 99% penetrance. Regions are defined by their 1-LOD support interval. Base pair positions are from hg19. An asterisk indicates the SNP was the first or last analyzed marker on the chromosome.</p><p>Regions with LOD>0.5 from parametric linkage analyses using Merlin when individual 2447 is treated as unknown (sub-pedigree).</p