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Annotating Transcriptional Effects of Genetic Variants in Disease‐Relevant Tissue: Transcriptome‐Wide Allelic Imbalance in Osteoarthritic Cartilage

9 Oct 2018

Abstract excerpt

OBJECTIVE: Multiple single-nucleotide polymorphisms (SNPs) conferring susceptibility to osteoarthritis (OA) mark imbalanced expression of positional genes in articular cartilage, reflected by unequally expressed alleles among heterozygotes (allelic imbalance [AI]). We undertook this study to explore the articular cartilage transcriptome from OA patients for AI events to identify putative disease-driving genetic...

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PMID: 30298554
DOI: 10.1002/art.40748

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