PMC:4157143 / 44689-45670 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PMC/sourceid/4157143","sourcedb":"PMC","sourceid":"4157143","source_url":"https://www.ncbi.nlm.nih.gov/pmc/4157143","text":"Figure 4 Large-Effect sQTLs in the Family\n(A) Enrichment of rare variants at large-effect sQTL genes. We ranked genes (x axis) on the basis of how often their effect sizes in the family were greater than their effect sizes in the population subsamples (see Material and Methods). We restricted to variants within 30 bp of splice sites and with a PhyloP score \u003e 1. As for cis-eQTLs (in Figure 2B), we observed that enrichment was dependent on allele frequency. We calculated enrichment by dividing the proportion of genes with such an annotated rare variant in each effect-size bin by the proportion of genes with an annotated rare variant across all effect-size bins.\n(B) Conservation scores, the distance to splice site, and allele frequency predict genes with a larger effect in the family than in the population. We observed that rare and conserved variants near splice sites (light blue) were highly predictive of a larger splicing effect in the family than in the population.","divisions":[{"label":"label","span":{"begin":0,"end":8}},{"label":"p","span":{"begin":10,"end":42}},{"label":"p","span":{"begin":43,"end":668}}],"tracks":[]}