Imputation Scenario Design Summary.

<p>Imputation Scenario Design Summary.</p

Concordance values between the “true” genotype and most likely imputed genotype for <i>GENE1</i> for various number of “anchor” markers.

<p>Table presents results for scenario with 50% of the samples sequenced.</p

Comparison of concordance rates between the various imputation scenarios for <i>COMT</i>.

<p>The proportion of the sample used as the reference panel is displayed on the X-axis and the percent concordant between the “true” genotype and the imputed most likely genotype is displayed on the Y-axis.</p

Comparison of minimum SNP imputation quality score between the various imputation scenarios for <i>COMT</i>.

<p>The proportion of the sample used as the reference panel is displayed on the X-axis and the minimum SNP imputation quality score is displayed on the Y-axis.</p

Comparison of mean SNP imputation quality score between the various imputation scenarios for <i>GENE1</i>.

<p>The proportion of the sample used as the reference panel is displayed on the X-axis and the mean SNP imputation quality score is displayed on the Y-axis.</p

Summary of sequence data for <i>GENE1</i> for variants with MAF>1% or in HapMap.

<p>*SNP Marker in HapMap; used as typed genotypes in all samples (i.e., markers on a GWAS SNP array).</p><p>MAF = minor allele frequency based on imputed “dosage” or expected genotype, position = physical base-pair location of the SNP based on build 36, ObsHET = observed heterozygote rate.</p

Comparison of mean SNP imputation quality score versus MAF for <i>COMT</i> imputation scenario 1.

<p>The MAF (group 1: 0≤MAF≤0.05, group 2: 0.05</p

Quisqualis indica L.

原著和名: インドシクンシ科名: シクンシ科 = Combretaceae採集地: 千葉県 千葉市 千葉大学 (下総 千葉市 千葉大学)採集日: 1974/7/6採集者: 萩庭丈壽整理番号: JH007681国立科学博物館整理番号: TNS-VS-95768

Additional file 3: Table S3. of eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

Dataset 1 results at p-value significance of 0.01. (XLSX 67 kb

Additional file 4: Table S4. of eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants

Dataset 2 results at p-value significance of 0.01. (XLSX 58 kb