Ontology highlight
ABSTRACT:
SUBMITTER: Ferraro NM
PROVIDER: S-EPMC7646251 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Science (New York, N.Y.) 20200910 6509
Rare genetic variants are abundant across the human genome, and identifying their function and phenotypic impact is a major challenge. Measuring aberrant gene expression has aided in identifying functional, large-effect rare variants (RVs). Here, we expanded detection of genetically driven transcriptome abnormalities by analyzing gene expression, allele-specific expression, and alternative splicing from multitissue RNA-sequencing data, and demonstrate that each signal informs unique classes of R ...[more]