Chikashi C. Terao

The paper identifies novel cell states and molecular profiles in lupus patients using single-cell data, linking them to disease severity and treatment outcomes.

The paper evaluates imputation performance in East and Southeast Asian populations, showing that recent selection affects variant detection and polygenic risk score estimation.

This study identifies EPHA4 signaling dysregulation as a contributor to idiopathic scoliosis by linking it to locomotion defects and CPG network disruption in zebrafish.

The paper investigates the association between mosaic loss events in blood and schizophrenia or bipolar disorder, finding increased odds ratios in young-onset cases.

The paper introduces CAMBUS, a machine-learning framework to identify functionally important open chromatin regions by measuring sequence sensitivity, and finds these regions are enriched for evolutionary constraint and disease-related variants.

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

The paper evaluates genotype imputation accuracy in multi-ancestry reference panels and finds that the Rsq metric overestimates dosage r2 due to systematic bias in imputation quality.

The paper constructs a single-cell atlas of transcribed cis-regulatory elements in the human genome, revealing gene regulation patterns and trait-gene relationships across cell populations.

This study identifies genetic loci and causal traits associated with ossification of the posterior longitudinal ligament of the spine using GWAS and Mendelian randomization analyses.

The paper identifies protein-altering structural variants in UK Biobank data and finds associations with various quantitative traits, including hypertension and type 2 diabetes risk.

This study identifies a genetic variant in COL11A1 associated with adolescent idiopathic scoliosis and proposes a molecular model involving Pax1, Col11a1, and Mmp3 in spinal chondrocytes.

This study identifies genetic drivers and cellular selection signatures of mosaic X chromosome loss in women using large-scale population data and polygenic scores.

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

This paper develops a computational method to detect rare CNVs in UK Biobank data, identifies 269 CNV-trait associations, and highlights novel gene-trait relationships.

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

The paper develops a tool to genotype mobile element variants (MEVs) using short-read data and identifies population-specific MEs linked to disease and gene regulation.

This study identifies cell-type-specific transcriptomic signatures associated with SLE disease establishment and exacerbation, highlighting their clinical relevance and potential limitations in capturing genetic risk factors.

This study conducts a trans-ancestry GWAS of rheumatoid arthritis, identifying 124 loci, 34 novel, and shows improved polygenic risk score performance across populations.

This study uses multivariable Mendelian randomization to show that higher bone mineral density causally increases osteoarthritis risk independently of body mass index.

Cross-population GWAS of 220 phenotypes in BioBank Japan, UK Biobank, and FinnGen (n=628,000) identifies 5,343 previously unreported loci and decomposes summary statistics into latent genetic components for disease subtyping.

This paper identifies new genetic loci for atrial fibrillation through a trans-ancestry meta-analysis and develops a polygenic risk score linked to cardioembolic risk.

This paper introduces sc-end5-seq and SCAFE to profile transcribed cis-regulatory elements in single cells, showing tCREs improve prediction of CRE interactions and disease heritability.

The paper identifies cis-interacting lncRNAs and their targets using RNA-chromatin and Hi-C data across 18 human cell types.

This study identifies 113 genomic loci for SLE in East Asians, including 46 novel loci, and highlights non-immune cell-related biological mechanisms.

The paper investigates the association between age-related mosaic chromosomal alterations and infection risk in 767,891 individuals without blood cancer, finding increased infection susceptibility linked to mCAs.

The paper analyzes HHV-6 integration in human genomes, identifies co-evolution with chr22q, and reports evidence of in vivo excision and reactivation.

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.

A large-scale GWAS in 212,453 Japanese individuals identified 45 novel susceptibility loci for 22 diseases, highlighting the importance of non-European population studies.

The paper develops MENTR, a machine learning framework to predict cell-type-specific ncRNA transcription from genome sequence, identifying causal variants and ncRNAs associated with complex traits.

The paper screens 12,503 Japanese CRC patients and 23,705 controls for germline variants in 27 cancer genes, finding 3.3% of patients have pathogenic variants linked to CRC risk.