<p>Nervous system genes (NSG, light grey) show a smaller <i>rdnsv</i> than immune system genes (ISG, medium grey) or randomly sampled genes (RSG, dark grey) in a European diploid genome sequence (A, C) and a pooled set of 200 European exome sequences (B, D). The greater <i>rdnsv</i> in the pooled 200 exomes than the individual genome indicates an enrichment of nsSNVs among rare SNVs.</p
<p>The mutational load of deleterious SNVs per person was found to be higher for common CVDs than fo...
<p>(<b>A</b>) Association between dS of LSD pairs and CNV regions, where dS is a proxy for age since...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
<p>Candidate genes for the nervous system (NSG) and the immune system (ISG) are defined by tissue sp...
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>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...
<p>a) Regions with a CNV in each epilepsy patient. b) Each CNV in the CNV catalog of the epilepsy an...
<p>NcRNAs have similar genomic densities compared to protein coding genes, but with fewer extreme de...
<p>Only genes probed on both platforms were considered for this analysis. Uncommon genes display low...
<p>a) Number of rare CNVs in or close to exons of protein-coding genes (top) or epilepsy genes (bott...
<p>The match between the test genome and the reference genome sequence was scored at each bp for all...
Copy number variation (CNV) impacting protein-coding genes contributes significantly to human divers...
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human divers...
<p>The mutational load of deleterious SNVs per person was found to be higher for common CVDs than fo...
<p>(<b>A</b>) Association between dS of LSD pairs and CNV regions, where dS is a proxy for age since...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...
<p>Candidate genes for the nervous system (NSG) and the immune system (ISG) are defined by tissue sp...
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>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...
<p>a) Regions with a CNV in each epilepsy patient. b) Each CNV in the CNV catalog of the epilepsy an...
<p>NcRNAs have similar genomic densities compared to protein coding genes, but with fewer extreme de...
<p>Only genes probed on both platforms were considered for this analysis. Uncommon genes display low...
<p>a) Number of rare CNVs in or close to exons of protein-coding genes (top) or epilepsy genes (bott...
<p>The match between the test genome and the reference genome sequence was scored at each bp for all...
Copy number variation (CNV) impacting protein-coding genes contributes significantly to human divers...
Copy number variation (CNV) affecting protein-coding genes contributes substantially to human divers...
<p>The mutational load of deleterious SNVs per person was found to be higher for common CVDs than fo...
<p>(<b>A</b>) Association between dS of LSD pairs and CNV regions, where dS is a proxy for age since...
<p><b>(A)</b> Allele frequency spectrum of bi-allelic CNVs across all 66 individuals, showing most d...