Heatmaps of base-level depth in the UCS cohort for the three previously-identified undercovered genes associated with the Custom V2 Exome Bait kit (A) and three cancer genes (B). Coding exons are plotted separately to highlight absence of probe coverage, such as in CCDC168, or incomplete probe coverage, such as in VHL, across different regions. Base coordinates follow chromosomal coordinates and are limited to CDS regions.</p
<p>Listed are the <i>AR</i> exonic and non-coding region probes (1–6), and control probes (7 and 8)....
Motivation: The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from ...
Sequences of the 54,870 probes used in the exome capture. The probe name consists of the sequence nu...
The KIRP cohort (A) uses both the Custom V2 Exome Bait kit, which is associated with insufficient co...
<p>This demonstrates the first exons of either the <i>VHL</i> gene (A) or the <i>SFRP1</i> gene (B) ...
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies...
<p>(A, B) Chromosomal distribution of point mutation (A) and indel (B) hot spots identified specific...
In cohorts assayed by heterogeneous capture kits, samples with insufficient coverage can be differen...
<p>Mean depth of coverage for 15 samples is shown for two genes on a log scale. Regions of no covera...
<p>(A) The exome coverage of the five longest autozygous regions. The plot shows the fraction of on-...
It is well established that genomic alterations play an essential role in oncogenesis, disease progr...
Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data an...
<p><b>A</b>) Left Panel: variants obtained from exome sequencing of tumor samples from Her2-enriched...
Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data an...
<p>Normalized coverage (RPKMs) is determined for each individual capturing exon, and the ratio tumor...
<p>Listed are the <i>AR</i> exonic and non-coding region probes (1–6), and control probes (7 and 8)....
Motivation: The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from ...
Sequences of the 54,870 probes used in the exome capture. The probe name consists of the sequence nu...
The KIRP cohort (A) uses both the Custom V2 Exome Bait kit, which is associated with insufficient co...
<p>This demonstrates the first exons of either the <i>VHL</i> gene (A) or the <i>SFRP1</i> gene (B) ...
Sequencing the coding regions, the exome, of the human genome is one of the major current strategies...
<p>(A, B) Chromosomal distribution of point mutation (A) and indel (B) hot spots identified specific...
In cohorts assayed by heterogeneous capture kits, samples with insufficient coverage can be differen...
<p>Mean depth of coverage for 15 samples is shown for two genes on a log scale. Regions of no covera...
<p>(A) The exome coverage of the five longest autozygous regions. The plot shows the fraction of on-...
It is well established that genomic alterations play an essential role in oncogenesis, disease progr...
Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data an...
<p><b>A</b>) Left Panel: variants obtained from exome sequencing of tumor samples from Her2-enriched...
Motivation: The advent of clinical exome sequencing will require new tools to handlecoverage data an...
<p>Normalized coverage (RPKMs) is determined for each individual capturing exon, and the ratio tumor...
<p>Listed are the <i>AR</i> exonic and non-coding region probes (1–6), and control probes (7 and 8)....
Motivation: The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from ...
Sequences of the 54,870 probes used in the exome capture. The probe name consists of the sequence nu...