Article

Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levels

2019-06-04

Abstract excerpt

<h4>Background</h4> Genome-wide association studies have identified 150+ loci associated with lipid levels. However, the genetic mechanisms underlying most of these loci are not well-understood. Recent work indicates that changes in the abundance of alternatively spliced transcripts contributes to complex trait variation. Consequently, identifying genetic loci that associate with alternative splicing in disease-r...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 988d7f2e-0c0b-5e06-bc9c-4890932c2c1a
DOI: 10.1101/659326

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Evaluating the contribution of cell-type specific alternative splicing to variation in lipid levelsDOI 10.1101/659326Read

Induced Pluripotent Stem Cell Differentiation Enables Functional Validation of GWAS Variants in Metabolic Disease.Semantic proximity Read

A Resource of Gene Expression Data from a Multiethnic Population Cohort of Induced Pluripotent Cell–Derived CardiomyocytesSemantic proximity Read

Large, Diverse Population Cohorts of hiPSCs and Derived Hepatocyte-like Cells Reveal Functional Genetic Variation at Blood Lipid-Associated Loci.Semantic proximity Read

Predicting Metabolic Dysfunction Associated Steatotic Liver Disease Risk Using Patient-Derived Induced Pluripotent Stem CellsSemantic proximity Read

Alternative splicing in the regulation of cholesterol homeostasis.Semantic proximity Read

Intersecting single-cell transcriptomics and genome-wide association studies identifies crucial cell populations and candidate genes for atherosclerosisSemantic proximity Read

Integrating Whole Genome and Transcriptome Sequencing to Characterize the Genetic Architecture of Isoform Variation and its Implications for Health and DiseaseSemantic proximity Read

Single nucleus RNA-sequencing integrated into risk variant colocalization discovers 17 cell-type-specific abdominal obesity genes for metabolic dysfunction-associated steatotic liver disease.Semantic proximity Read

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genome.Semantic proximity Read

Systematic assessment of regulatory effects of human disease variants in pluripotent cellsSemantic proximity Read

Identification and analysis of splicing quantitative trait loci across multiple tissues in the human genomeSemantic proximity Read

Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.Semantic proximity Read