PSAAP algorithm performance of predicted phenotypes using curated <i>RET</i> mutations.

a<p>Primary Sequence Amino Acid Properties (PSAAP) algorithm.</p>b<p>Analyzed with default settings at <a href="http://mutdb.org/mutpred" target="_blank">http://mutdb.org/mutpred</a>.</p>c<p>Analyzed with default settings at <a href="http://genetics.bwh.harvard.edu/pph" target="_blank">http://genetics.bwh.harvard.edu/pph</a>.</p>d<p>Analyzed with default settings at <a href="http://mmb.pcb.ub.es/PMut" target="_blank">http://mmb.pcb.ub.es/PMut</a>.</p>e<p>Analyzed with default settings at <a href="http://sift.jcvi.org" target="_blank">http://sift.jcvi.org</a>.</p

Schematic of the RET protein with A) clinically curated variants and B) predicted disease association for uncertain variants mapped across protein location.

<p>The phenotype overlay shows regions of reported MEN2A, MEN2B and FMTC disease.</p

Schematic of the full length 1114 amino acid RET protein showing the signal peptide (SP, residues 1-24), cadherin domain (CAD, residues 191-270), transmembrane domain (TM, residues 636-652), and tyrosine kinase motif (Kinase, residues 724-1005).

<p>Schematic of the full length 1114 amino acid RET protein showing the signal peptide (SP, residues 1-24), cadherin domain (CAD, residues 191-270), transmembrane domain (TM, residues 636-652), and tyrosine kinase motif (Kinase, residues 724-1005).</p

Overview of the PSAAP classifier workflow, highlighting the gene-specific algorithm training on clinically curated disease association.

<p>Overview of the PSAAP classifier workflow, highlighting the gene-specific algorithm training on clinically curated disease association.</p

Quantitative and case-control association result of top SNPs in UGT1A1 for total serum bilirubin levels in pediatric and adult subgroups.

<p>*Map Position: NCBI build 37.</p><p>†linear regression association test.</p><p>‡Chi-square test.</p><p>Quantitative and case-control association result of top SNPs in UGT1A1 for total serum bilirubin levels in pediatric and adult subgroups.</p

(A and B) Manhattan plot and Q–Q plot of genome-wide markers for total serum bilirubin in 3294 European samples respectively.

<p>(A and B) Manhattan plot and Q–Q plot of genome-wide markers for total serum bilirubin in 3294 European samples respectively.</p

A schematic representation of association map at UGT1A region for total serum bilirubin.

<p>The TA repeat location is shown with vertical line.</p

(A) The association signal between total serum ALP and the ABO blood locus. (B): The association of lead SNPs at the ABO locus with serum ALP and their relation with ABO tag SNPs (rs8176746, rs8176704, rs505922); A significant drop in association effect in lead SNPs after controlling for ABO-tag SNPs are shown (red and black dots represent before and after conditional analyses respectively).

<p>(A) The association signal between total serum ALP and the ABO blood locus. (B): The association of lead SNPs at the ABO locus with serum ALP and their relation with ABO tag SNPs (rs8176746, rs8176704, rs505922); A significant drop in association effect in lead SNPs after controlling for ABO-tag SNPs are shown (red and black dots represent before and after conditional analyses respectively).</p

A GWAS Study on Liver Function Test Using eMERGE Network Participants - Table 4

<p>A GWAS Study on Liver Function Test Using eMERGE Network Participants - Table 4 </p

The LD structure between markers in peak association signals.

<p>r2 = correlation coefficient as a measure of linkage disequilibrium.</p