PMC:4157143 / 36839-37441 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":"We compared, in addition to gene expression, ASE and alternative splicing between the family and the population. As with gene expression, we observed enrichment in rare variants for large-effect ASE and sQTLs in the family. Furthermore, we observed that evolutionary constraint and distance to splice sites for rare splicing variants was significantly informative of large splicing effects in the family. With both large-effect eQTLs and large-effect sQTLs predicted by rare variants, this study highlights existing potential for routine integration of these variants in rare-variant association tests.","tracks":[]}