1. SNPs controlling the abundance of mRNA isoforms for a gene

2. Similar to SNPs controlling the abundance of expression of a gene (eQTLs)

1. Gene-Tissue Expression project eQTL data: 49 tissues but small sample sizes (~200-1200)

2. eqtlGen cohort: whole blood with >30,000 people

3. Two cohort measures of cross-brain eQTLs

4. GTEx 10-13 brain tissues (& whole body): eQTLs for ASD, ALZ, & Parkinson’s

5. In the process, I found the sQTL data…

• More tissues for sGenes (GTEx’s chosen top sQTL), but only one SNP

• Can consider running SMR for the sGene data to capture breast and brain

• Downside is that we can’t test colocalization with only one SNP per gene

• Colocalization is a way to gain evidence that the same SNP is causal for both splicing and the GWAS phenotype

• Without evidence of a single, underlying “causal” SNP, there is more evidence that the signal is due to genetic architecture (i.e., linkage)

• Protein localization to nucleolus (GO:1902570)

• Nucleolus organization (GO:0007000)

• Regulation of protein localization to nucleolus (GO:1904749)

• AmiGO search terms “ribosomal proteins” (cytosolic & mitochondrial ribosomes) & “ribosomal biogenesis”

1. Alzheimer’s disease (ALZ)

2. Autism spectrum disorder (ASD)

3. Education years (EduYears)

4. Forced expiratory volume in 1-second (FEV1)

5. High- and low-grade serous ovarian cancer (HLGOC)

6. High-grade serous ovarian cancer (HGOC)

7. Lung cancer (LC)

8. Ovarian cancer (OC)

9. Parkinson’s disease (PD)

To add: lifespan, healthspan, ???