Transcriptome sequencing of a large human family identifies the impact of rare non-coding variants

ABSTRACT: We have combined high-quality genome sequencing and RNA-sequencing data within a 17-individual, three generation family. Using these data, we have contrasted cis-acting expression, allele-specific expression and splicing quantitative trait loci (collectively termed eQTLs) within the family to eQTLs discovered within a cell-type and ethnicity-matched population sample. We identified that eQTL that exhibit larger effects in the family compared to the population are enriched for rare regulatory and splicing variants and were more likely to influence essential genes. In addition, we identify several large effect-size eQTLs within the family for genes involved in complex disease. Through analysis of eQTLs in a large family we also report the utility of non-coding genome annotation to predicting

ORGANISM(S): Homo sapiens

SUBMITTER: Xin Li 

PROVIDER: E-GEOD-56961 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress