16 research outputs found
Sequencing and Alignment Statistics for Ten Stroke Exomes.
<p>Sequencing and Alignment Statistics for Ten Stroke Exomes.</p
Characteristics of the 10 male stroke cases implemented in the pilot study.
<p>Characteristics of the 10 male stroke cases implemented in the pilot study.</p
GEOS population characteristics by case-control status.
<p>GEOS population characteristics by case-control status.</p
SNP Summary for SNPs in target exome regions only.
<p>SNP Summary for SNPs in target exome regions only.</p
Compound heterozygotes in exome data for genes in which every case had a least two novel variants in the same gene isoform, only 6 genes (9 total isoforms) satisfied this criterion.
<p>The figure illustrates the 9 isoforms (left y-axis) per sample (x-axis) by variant type (left y-axis). Notably, two of the <i>CTPB2</i> isoforms (NM_001329 and NM_ 001083914) were seen to have a non-sense codon occurring in all 10 samples.</p
Genes in which at least two variations which are novel.
<p>Genes in which at least two variations which are novel.</p
Select Gene Analyses: 10 Exome Cases vs. 3 Control Populations.
<p>Select Gene Analyses: 10 Exome Cases vs. 3 Control Populations.</p
SNPs in the 10 cases exomes vs. 3 control populations.
<p>SNPs in the 10 cases exomes vs. 3 control populations.</p
This image shows the start region for <i>CTPB2</i> gene (chromosome 10) in the Integrated Genomics Viewer.
<p>The top three tracks show aligned sequence coverage for three of the pilot exomes and demonstrate the T to A substitution resulting in the nonsense codon as compared to the two bottom tracks showing the annotated RefSeq and codon positions.</p