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

Wouter den HollanderIrina PulyakhinaCindy BoerNils BomerRuud van der BreggenWibowo ArindrartoRodrigo Couthino de AlmeidaNico LakenbergThom SentnerJeroen F J LarosPeter A C 't HoenEline P E SlagboomRob G H H NelissenJoyce van MeursYolande F M RamosIngrid Meulenbelt

Published in: Arthritis & rheumatology (Hoboken, N.J.) (2019)

We present a framework and resulting data set for researchers in the OA research field to probe for disease-relevant genetic variation that affects gene expression in pivotal disease-affected tissue. This likely includes putative novel compelling OA risk genes such as CRLF1, WWP2, and RPS3.

Keyphrases

gene expression
genome wide
knee osteoarthritis
single cell
transcription factor
living cells
big data
extracellular matrix
artificial intelligence
deep learning
heat stress
genome wide identification
bioinformatics analysis