11 research outputs found
Maximum LOD scores at DYX loci in the original dataset ‘r’ indicates maximization of lod score under recessive model, ‘d’ under dominant model.
<p>Maximum LOD scores at DYX loci in the original dataset ‘r’ indicates maximization of lod score under recessive model, ‘d’ under dominant model.</p
Pedigree of French-Canadian origin multiplex for RE (blue) and reading disability (red); arrow indicates proband.
<p>Pedigree of French-Canadian origin multiplex for RE (blue) and reading disability (red); arrow indicates proband.</p
Multipoint analysis of Reading Disability on chromosome 7 in original dataset: maximum HLOD  = 3.08 at D7S660 under a dominant mode of inheritance with 50% penetrance.
<p>Black line shows the multipoint linkage evidence using a heterogeneity LOD score (HLOD); dotted black line shows the LOD score; and blue line the information content.</p
Genome-wide LOD scores exceeding 2.0 in two-point MMLS linkage analysis for Reading Disability (RD) in original dataset; LOD scores for broader phenotypes (RD or Speech Sound Disorder (SSD) and RD or CentroTemporal Spikes (CTS)) at these loci also listed.
<p>Genome-wide LOD scores exceeding 2.0 in two-point MMLS linkage analysis for Reading Disability (RD) in original dataset; LOD scores for broader phenotypes (RD or Speech Sound Disorder (SSD) and RD or CentroTemporal Spikes (CTS)) at these loci also listed.</p
Logistic regression model results for MSI status with various predictor combinations in the combined data.
<p>Age at diagnosis, sex, and location are covariates common to all the models described above. IHC refers to the MLH1 immunohistochemical staining variable, CH3 refers to the <i>MLH1</i> promoter methylation variable, AIC  =  Akaike's information criterion. Logistic regression models for each SNP per study population and for the combined data are shown in <b>Supplementary <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0013314#pone.0013314.s003" target="_blank">File S3</a></b>.</p><p>The role of three SNPs of interest, rs1800734, rs749072, and rs13098279, is explored.</p
Single marker analysis in the combined data for 3 SNPs for CRC cases versus controls, <i>MLH1</i> promoter methylation, MLH1 IHC staining and MSI tumor status.
<p>Analyses of CRC cases versus controls are adjusted for age, sex, and site.</p><p>OR  =  odds ratio, CI  =  confidence interval.</p><p>Single marker results for the above SNPs for each study population are shown in <b>Supplementary <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0013314#pone.0013314.s002" target="_blank">File S2</a></b>.</p
Region of chromosome 3 examined with genes and 3 SNPs.
<p>A total of 99 polymorphisms were examined in the Ontario samples across a 500kb region of chromosome 3 surrounding the <i>MLH1</i> gene. Genes in this region are outlined (top panel) along with their transcriptional directionality (bottom panel). The three polymorphisms of interest are indicated. Modified from Ensembl (<a href="http://www.ensembl.org" target="_blank">www.ensembl.org</a>).</p
Proposed model for genetic susceptibility to DNA methylation in sporadic MSI-H CRCs.
<p>Specific SNPs predispose the region, including the <i>MLH1</i> gene promoter, to methylation, which results in promoter silencing and loss of <i>MLH1</i> gene expression that is measured by immunohistochemical staining. Loss of the <i>MLH1</i> gene expression leads to genome-wide microsatellite instability and MSI-H colorectal cancer.</p
Additional file 5: Table S3. of Lessons learned from additional research analyses of unsolved clinical exome cases
Diagnostic rate differs among groups of patients with different phenotypic features. (XLSX 8 kb
Additional file 2: of Lessons learned from additional research analyses of unsolved clinical exome cases
Figures S1, S2, S3, and S4. Computational de novo variant detection from WES data, interactome analysis of USP19, AOH maps for probands with ABCA4 and FBXL4 variants and clinical whole exome management. (PDF 3462 kb