22 research outputs found
Pairwise linkage disequilibrium (LD) diagram for <i>CPT1B</i> and <i>CPT2</i> in Inuit.
<p>LD block was delineated using confidence intervals (Gabriel et al), and 0.6–0.98 for strong LD. Variants of MAF<0.05 were indicated with dashed-line. Variants were extracted from exome sequencing and SNP array data, with the asterisk indicated variants only genotyped by the SNP array. D value <1 was shown in the box, with red color indicated LOD ≥2.</p
Mutation burden scores of identified rare mutations (MAF<0.01) of carnitine acyltransferase genes in Nunavik Inuit and 1KGP Asians.
<p>Mutation burden scores of identified rare mutations (MAF<0.01) of carnitine acyltransferase genes in Nunavik Inuit and 1KGP Asians.</p
Genomic features of carnitine acyltransferase genes.
<p>Genomic features of carnitine acyltransferase genes.</p
Coding variants of carnitine acyltransferase genes discovered in Nunavik Inuit.
<p>Coding variants of carnitine acyltransferase genes discovered in Nunavik Inuit.</p
The <i>F</i><sub><i>ST</i></sub> and <i>F</i><sub><i>IS</i></sub> value of 13 variants in the population containing Nunavik Inuit and HapMap Asians.
<p>The <i>F</i><sub><i>ST</i></sub> and <i>F</i><sub><i>IS</i></sub> value of 13 variants in the population containing Nunavik Inuit and HapMap Asians.</p
Scatterplot of the frequencies and deleterious scores of <i>CPT1A</i>, <i>CPT1B</i>, <i>CPT1C</i>, <i>CPT2</i> and <i>CRAT</i> missense variants.
<p>Variants were extracted from 286 Asians from 1KGP, EVS populations comprising 4,294 European descendants and 100 Nunavik Inuit.</p
Deleterious scores of all rare missense variants in carnitine acyltransferase genes found in Nunavik Inuit and 1KGP Asians.
<p>Deleterious scores of all rare missense variants in carnitine acyltransferase genes found in Nunavik Inuit and 1KGP Asians.</p
MDS plot showing the distinctive ethnicity relationships of CEU, YRI, JPT-CHB and Nunavik Inuit.
<p>Individuals in the dashed-line box have a mixture of both Inuit and European genomes.</p
Additional file 1: Figure S1. of Epistasis analysis links immune cascades and cerebral amyloidosis
[18F]Florbetapir SUVR analytical method. Flowchart showing acquisition methods (purple), image processing (blue), and outcomes (green). PET positron emission tomography, MRI magnetic resonance imaging, GM gray matter, WM white matter, CSF cerebrospinal fluid, FWHM first width half maximum, ROI region of interest. (TIFF 2485 kb
Additional file 2: Tables S1–S4. of Epistasis analysis links immune cascades and cerebral amyloidosis
Table S1. List of SNPs within each set. Table S2. R epistasis results (first 15 lines). Table S3. Tukey’s HSD test results. Table S4. Interaction tested using Aβ1-42/p-tau ratio as phenotype. (DOCX 66 kb