✅ 2024 Nature Genetics - Genetic mapping across autoimmune diseases reveals shared associations and mechanisms
2024 Nature Communications - Integrating single cell expression quantitative trait loci summary statistics to understand complex trait risk genes
2022 Nature genetics - Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data
2022 Cancer Discovery - Prostate Cancer Transcriptomic Regulation by the Interplay of Germline Risk Alleles Somatic Mutations and 3D Genomic Architecture
2019 Nature Communications - SLE non-coding genetic risk variant determines the epigenetic dysfunction of an immune cell specific enhancer that controls disease-critical microRNA expression
2. RNA & Function Analysis
2024 Cell Reports Medicine - Uncoupling interferons and the interferon signature explains clinical and transcriptional subsets in SLE
II. RNA editing and splicing
1. Genetics & Post-GWAS
✅2024 Nature Genetics - Single-cell RNA sequencing of peripheral blood links cell-type-specific regulation of splicing to autoimmune and inflammatory diseases
✅ 2022 Nature - RNA editing underlies genetic risk of common inflammatory diseases
2022 Nature Genetics - Genetic control of RNA splicing and its distinct role in complex trait variation
✅ 2020 Nature - PCAWG - Genomic basis for RNA alterations in cancer
2020 Genome Biology - Human A-to-I RNA editing SNP loci are enriched in GWAS signals for autoimmune diseases and under balancing selection
2019 Nature Genetics - An atlas of alternative polyadenylation quantitative trait loci contributing to complex trait and disease heritability
2. Functional Regulation
2017 Genome Research - Systematic characterization of A-to-I RNA editing hotspots in microRNAs across human cancers.
2015 Cancer cell - The Genomic Landscape and Clinical Relevance of A-to-I RNA Editing in Human Cancers
III. RNA modification
1. Genetics & Post-GWAS
[m6a-qtl in 129 tissue m6a-seq] 2021 Nature Genetics - Genetic drivers of m 6 A methylation in human brain, lung, heart and muscle
✅ [m6a-qtl in 60 celllines] 2020 Nature Genetics - Genetic analyses support the contribution of mRNA N 6 -methyladenosine (m 6 A) modification to human disease heritability
2. Functional Regulation
✅ [m6a regulators in public 9804 samples] 2021 Molecular Cancer - Comprehensive analyses of m6A regulators and interactive coding and non-coding RNAs across 32 cancer types
[rna mod. regulators in 1697 public crc samples] 2021 Molecular Cancer - Cross-talk of four types of RNA modification writers defines tumor microenvironment and pharmacogenomic landscape in colorectal cancer
[rna mod. regulators in 13358 public tissue rna-seq] 2020 Genome Biology - Integrative analyses of the RNA modification machinery reveal tissue- and cancer-specific signatures