<p>The table shows the distribution of CNV patterns among haplogroups for ten variants that showed overrepresentation in one or more haplogroups. Ambiguous individuals, for which haplotype determination was not possible, are shown in the table for completeness, but they were not included in the statistical analysis. The p-values after Pearson Chi-Square analysis, likelihood ratio and Fisher’s exact test are shown at the bottom of the table, together with the total amount of each CNV type. The % frequency is derived from CNV type observations divided by 1506 individuals for which haplogroup could be determined. The stars mark values that are significant with the standard residual indicated in parenthesis. (Ind.) individuals, (dupl) duplicati...
Abstract Background Algorithms and software for CNV detection have been developed, but they detect t...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
Motivation: Estimating the frequency distribution of copy number variants (CNVs) is an important asp...
<p>Each part of the figure shows the graphical representation of the first two eigenvectors after PC...
<p>From a total of 1718 individuals, 1506 could be assigned to specific haplogroups based on a limit...
a<p>CNV = choroidal neovascularization.</p>b<p>P-value: Pearson chi-square or Fisher's exact test.</...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
<p>a) Percent of Global CNV load across all populations. A total of 44109 CNVs across the genome sho...
<p>The histograms show the ratio of average expression levels between individuals with and without t...
(A) Table listing variably expressive (top) and syndromic (bottom) CNV regions is shown. The colored...
<p>Note the spikes for haplotypes 49/51 and 60. Frequencies are displayed by population and referenc...
<p>A histogram of the difference in allele frequency for the non-reference allele between Hutterites...
BACKGROUND: Algorithms and software for CNV detection have been developed, but they detect the CNV r...
a<p>mtDNA = mitochondrial DNA.</p>b<p>CNV = choroidal neovascularisation.</p>c<p>n: number of indivi...
<p>Frequencies are plotted by typing resolution and reference haplotype set. Haplotypes are on the x...
Abstract Background Algorithms and software for CNV detection have been developed, but they detect t...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
Motivation: Estimating the frequency distribution of copy number variants (CNVs) is an important asp...
<p>Each part of the figure shows the graphical representation of the first two eigenvectors after PC...
<p>From a total of 1718 individuals, 1506 could be assigned to specific haplogroups based on a limit...
a<p>CNV = choroidal neovascularization.</p>b<p>P-value: Pearson chi-square or Fisher's exact test.</...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
<p>a) Percent of Global CNV load across all populations. A total of 44109 CNVs across the genome sho...
<p>The histograms show the ratio of average expression levels between individuals with and without t...
(A) Table listing variably expressive (top) and syndromic (bottom) CNV regions is shown. The colored...
<p>Note the spikes for haplotypes 49/51 and 60. Frequencies are displayed by population and referenc...
<p>A histogram of the difference in allele frequency for the non-reference allele between Hutterites...
BACKGROUND: Algorithms and software for CNV detection have been developed, but they detect the CNV r...
a<p>mtDNA = mitochondrial DNA.</p>b<p>CNV = choroidal neovascularisation.</p>c<p>n: number of indivi...
<p>Frequencies are plotted by typing resolution and reference haplotype set. Haplotypes are on the x...
Abstract Background Algorithms and software for CNV detection have been developed, but they detect t...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
Motivation: Estimating the frequency distribution of copy number variants (CNVs) is an important asp...