<p>Candidate genes for the nervous system (NSG) and the immune system (ISG) are defined by tissue specific expression or keyword search and further compared with a set of randomly sampled genes (RSG). A) Overall <i>rdnsv</i> estimates for a diploid genome and 200 exome sequences, which reflect the density of nonsynonymous variants on a mixture of SNVs that range from rare to common in their population frequency. B) SNVs from the 200 exome dataset are additionally stratified by their derived allele frequency and a regression model is fitted to the values of <i>rdnsv</i>. The predicted value for the allele frequency of 0 is referred to as <i>rdnsv<sub>0</sub></i>, whereas the predicted value for the allele frequency of 1 is referred to as <i>...
Abstract Background Descriptive hierarchical Poisson models and population-genetic coalescent mixtur...
Part 1: High-throughput sequencing of DNA coding regions has become a common way of assaying genomic...
<p>The frequency of each V<sub>H</sub>(D)J<sub>H</sub> recombination was determined for each of nine...
To measure the strength of natural selection that acts upon single nucleotide variants (SNVs) in a s...
To measure the strength of natural selection that acts upon single nucleotide variants (SNVs) in a s...
<p>Nervous system genes (NSG, light grey) show a smaller <i>rdnsv</i> than immune system genes (ISG,...
<p>A) expression-based candidate genes and B) keyword-based candidate genes. The value of <i>rdnsv</...
<p>The 10 GO-categories with the smallest (A) and the greatest (B) mean values of <i>rdnsv</i> are s...
There has been recent success in identifying disease-causing variants in Mendelian disorders by exom...
<p>The x-axis shows the ten transporter categories, and y-axis shows the corresponding value: (A) th...
<p>The match between the test genome and the reference genome sequence was scored at each bp for all...
(A) Overlap between genes with candidate SNPs identified using different methods in the exome: linea...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
<p><b>A)</b> Histogram of estimated log enrichment statistic, defined as the log of the bias correct...
Part 1: High-throughput sequencing of DNA coding regions has become a common way of assaying genomic...
Abstract Background Descriptive hierarchical Poisson models and population-genetic coalescent mixtur...
Part 1: High-throughput sequencing of DNA coding regions has become a common way of assaying genomic...
<p>The frequency of each V<sub>H</sub>(D)J<sub>H</sub> recombination was determined for each of nine...
To measure the strength of natural selection that acts upon single nucleotide variants (SNVs) in a s...
To measure the strength of natural selection that acts upon single nucleotide variants (SNVs) in a s...
<p>Nervous system genes (NSG, light grey) show a smaller <i>rdnsv</i> than immune system genes (ISG,...
<p>A) expression-based candidate genes and B) keyword-based candidate genes. The value of <i>rdnsv</...
<p>The 10 GO-categories with the smallest (A) and the greatest (B) mean values of <i>rdnsv</i> are s...
There has been recent success in identifying disease-causing variants in Mendelian disorders by exom...
<p>The x-axis shows the ten transporter categories, and y-axis shows the corresponding value: (A) th...
<p>The match between the test genome and the reference genome sequence was scored at each bp for all...
(A) Overlap between genes with candidate SNPs identified using different methods in the exome: linea...
License, which permits unrestricted use, distribution, and reproduction in any medium, provided the ...
<p><b>A)</b> Histogram of estimated log enrichment statistic, defined as the log of the bias correct...
Part 1: High-throughput sequencing of DNA coding regions has become a common way of assaying genomic...
Abstract Background Descriptive hierarchical Poisson models and population-genetic coalescent mixtur...
Part 1: High-throughput sequencing of DNA coding regions has become a common way of assaying genomic...
<p>The frequency of each V<sub>H</sub>(D)J<sub>H</sub> recombination was determined for each of nine...