Po‐Ru Loh

This study identifies mosaic chromosomal alterations in healthy human tissues, revealing tissue-specific patterns of mitotic errors and purifying selection across aging.

This study identifies genetic factors influencing mosaic aneuploidies in blood genomes using whole-genome sequencing data from 840,853 individuals.

The paper identifies 43,617 mosaic chromosomal alterations in blood from 484,081 UK Biobank participants, revealing genomic hotspots and associations with age-related clonal expansions and genetic pathways.

The paper examines how human genetic and environmental factors influence viral DNA load in blood and saliva, identifying genetic loci and alleles associated with specific viruses and their health impacts.

The paper identifies 11 human genetic loci associated with oral microbiome composition and host-microbial interactions linked to tooth decay.

The paper analyzes DNA repeat instability in 700,000 participants to identify genetic modifiers of repeat expansion and contraction rates and their clinical associations.

The paper introduces GeNA, a tool to identify genetic variants influencing cell state abundance in single-cell data, finding five loci associated with immune cell state shifts.

The paper introduces LDSPEC to estimate correlations between causal disease effects of proximal SNPs, finding significant correlations that vary with distance, allele frequency, LD, and functional annotations, implicating stabilizing selection.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

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 assesses the contribution of Neanderthal introgression to human complex traits using UK Biobank data, finding significant but depleted effects compared to modern human variants.

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

The paper identifies non-coding VNTRs associated with glaucoma and colorectal cancer risk using UK Biobank data and statistical imputation.

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 introduces Numbat, a method that uses haplotype information to improve detection of copy number variations from scRNA-seq data, revealing subclonal complexity in cancer.

This study combines polygenic risk scores with family history to improve disease risk prediction across diverse populations, showing significant gains in accuracy.

The paper analyzes recessive Mendelian disease variants in UK Biobank to find mitigated phenotypes in heterozygous carriers, identifying associations with quantitative and disease traits.

The paper estimates VNTR lengths from whole-exome sequencing data and identifies associations between VNTRs and human phenotypes, finding strong effects on traits like height and lipoprotein(a).

The paper uses whole-exome imputation in UK Biobank to identify rare coding variant associations and fine-mapping results for 54 traits, finding 1,189 significant associations involving 675 novel variants.

This paper introduces an analytical method to estimate effective sample size in mixed-model GWAS of quantitative traits, showing its performance in unrelated and related individuals.

The paper investigates the role of mosaic copy number variants (mCNVs) in autism spectrum disorder (ASD) by analyzing genetic data from ASD probands and unaffected siblings, finding a significant association between large mCNVs and ASD risk.

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 identifies inherited and acquired genetic variants that increase susceptibility to clonal hematopoiesis by influencing clonal selection through monogenic and polygenic mechanisms.

LDpred-funct adds baseline-LD functional priors to polygenic scores: average prediction R2 0.144 across 21 UK Biobank traits, a 4.6% relative gain over SBayesR.

This paper introduces a new association method, LT-FH, that combines case-control status and family history to increase power in genetic association studies, outperforming existing methods across multiple diseases.

The paper introduces a model for structured polygenic epistasis called Coordinated Interaction and tests it using the UK Biobank, finding evidence in 14 of 26 traits.

Harmony alternates diversity-penalized soft clustering with cluster-specific linear correction of PCA embeddings, integrating single-cell datasets over multiple covariates and handling 500,000 cells in 7.2GB of memory.

The paper constructs cell-type-specific TF binding annotations by combining sequence-based predictions with chromatin data, showing increased heritability enrichment for 49 diseases.

This study analyzes genomic mutations in clonal hematopoiesis across 179,417 Japanese individuals, revealing population-specific patterns and differences in cancer risk.

The paper assesses gene network connectivity's role in disease heritability using LD score regression and finds that network annotations are enriched but largely explained by regulatory annotations.