Jun Inamo

Jun 20, 2024 | biorxiv.org | Kaylee Rosenberger |Lauren A. Vanderlinden |Jun Inamo |Hope A Townsend

AbstractBackground: Understanding genetic underpinnings of immune-mediated inflammatory diseases is crucial to improve treatments. Single-cell RNA sequencing (scRNA-seq) identifies cell states expanded in disease, but often overlooks genetic causality due to cost and small genotyping cohorts. Conversely, large genome-wide association studies (GWAS) are commonly accessible.

May 28, 2024 | nature.com | Jun Inamo |Mahoko Takahashi Ueda |Hiroshi Nishida |Tsutomu Takeuchi |Kazuyoshi Ishigaki |Yasushi Ishihama

AbstractAlternative splicing events are a major causal mechanism for complex traits, but they have been understudied due to the limitation of short-read sequencing. Here, we generate a full-length isoform annotation of human immune cells from an individual by long-read sequencing for 29 cell subsets. This contains a number of unannotated transcripts and isoforms such as a read-through transcript of TOMM40-APOE in the Alzheimer’s disease locus.