<p>A) Venn diagram illustrating the distribution of SNVs for patient 140. Unique variants found by WGA are represented in light blue, and unique variants found without amplification are shown in light green. Shared variants identified by both methods are shown in green. B) Boxplot of the coverage of genetic variants found uniquely by WGA, without amplification, and with both methods for patient 140. The two leftmost boxes represent shared variant calls with coverage in those positions for WGA and without amplification, respectively. The two rightmost boxes represent the coverage over unique positions for each method. C) Venn diagram illustrating the distribution of SNVs for patient 295. Unique variants found by WGA are represented in light ...
<p>A) The relationship between the numbers of variant reads divided by total reads for SNVs identifi...
Contains fulltext : 174800.pdf (publisher's version ) (Closed access)Next-generati...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...
<p>Only variation with minimum depth of coverage of 20x and minimum quality of 13 were taken into ac...
<p>A Venn diagram depicts the number of variants after bioinformatics filtering to identify nonsynon...
<p>Genes containing variants were identified with the <i>disease association panel</i> (<b>A-C</b>) ...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
<p>(A) Color map showing the different modules in the WGCNA analysis. Below it, heat maps depicting,...
<p>A) Heatmap of number of variants per tumour group. On the y-axis the different primary tumour sit...
<p>(A) A dynastic tree illustrating the relationship between mother, daughter, and granddaughter clo...
In recent years, the advent of genotyping and sequencing technologies has enabled human genetics to ...
<p>Left panel, Patient 1, clonal; right panel, Patient 2, independent. Each dot represents a HC shar...
<p>The presence of mutations colored in red was not confirmed by Sanger sequencing while the presenc...
<p>(A) Current approach. GWAS identify variants that are overrepresented in cases. Rare variants of ...
Despite of the low occurrence rate in the entire genomes, de novo mutation is proved to be deleterio...
<p>A) The relationship between the numbers of variant reads divided by total reads for SNVs identifi...
Contains fulltext : 174800.pdf (publisher's version ) (Closed access)Next-generati...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...
<p>Only variation with minimum depth of coverage of 20x and minimum quality of 13 were taken into ac...
<p>A Venn diagram depicts the number of variants after bioinformatics filtering to identify nonsynon...
<p>Genes containing variants were identified with the <i>disease association panel</i> (<b>A-C</b>) ...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
<p>(A) Color map showing the different modules in the WGCNA analysis. Below it, heat maps depicting,...
<p>A) Heatmap of number of variants per tumour group. On the y-axis the different primary tumour sit...
<p>(A) A dynastic tree illustrating the relationship between mother, daughter, and granddaughter clo...
In recent years, the advent of genotyping and sequencing technologies has enabled human genetics to ...
<p>Left panel, Patient 1, clonal; right panel, Patient 2, independent. Each dot represents a HC shar...
<p>The presence of mutations colored in red was not confirmed by Sanger sequencing while the presenc...
<p>(A) Current approach. GWAS identify variants that are overrepresented in cases. Rare variants of ...
Despite of the low occurrence rate in the entire genomes, de novo mutation is proved to be deleterio...
<p>A) The relationship between the numbers of variant reads divided by total reads for SNVs identifi...
Contains fulltext : 174800.pdf (publisher's version ) (Closed access)Next-generati...
Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversi...