Ketian Yu

TL;DR: The results imply that rare variants, in particular those in regions of low linkage disequilibrium, are a major source of the still missing heritability of complex traits and disease.

TL;DR: A new computational framework, probabilistic transcriptome-wide association study (PTWAS), to investigate causal relationships between gene expressions and complex traits and provides novel functionalities to evaluate the causal assumptions and estimate tissue- or cell-type-specific gene-to-trait effects.

TL;DR: In this article , the authors explored the impact of rare variants (minor allele frequency < 1%) on highly heritable plasma metabolites identified in metabolomic screens and identified 303 novel association signals, more than one third at variants rare or enriched in Finns.

TL;DR: In this article, the authors performed genome-wide analyses of participants in the HUNT Study in Norway to search for protein-altering variants with beneficial impact on quantitative blood traits related to cardiovascular disease, but without detrimental impact on liver function.

TL;DR: This paper applies probabilistic eQTL annotations derived from multi-variant Bayesian fine-mapping analysis conferring higher power to detect TWAS associations than existing methods to analyze 114 complex traits using GWAS summary statistics from several large-scale projects, including the UK Biobank.