Author: Po-Ru Loh

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Preprints

Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection

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Fast, sensitive, and accurate integration of single cell data with Harmony

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Partitioning heritability by functional category using GWAS summary statistics

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Reconstructing Austronesian population history in Island Southeast Asia

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LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies

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A Saturated Map of Common Genetic Variants Associated with Human Height from 5.4 Million Individuals of Diverse Ancestries

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LDpred-funct: incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

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Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

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Mixed model association for biobank-scale data sets

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Contrasting regional architectures of schizophrenia and other complex diseases using fast variance components analysis

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Haplotypes of common SNPs can explain missing heritability of complex diseases

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Fast principal components analysis reveals convergent evolution of ADH1B gene in Europe and East Asia

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Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection

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Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk

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Haplotype-enhanced inference of somatic copy number profiles from single-cell transcriptomes

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Fast and accurate long-range phasing in a UK Biobank cohort

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Estimating the proportion of disease heritability mediated by gene expression levels

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Efficient Bayesian mixed model analysis increases association power in large cohorts

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Reference-based phasing using the Haplotype Reference Consortium panel

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Multi-ethnic polygenic risk scores improve risk prediction in diverse populations.

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Population structure of UK Biobank and ancient Eurasians reveals adaptation at genes influencing blood pressure

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Hematopoietic mosaic chromosomal alterations and risk for infection among 767,891 individuals without blood cancer

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Leveraging molecular QTL to understand the genetic architecture of diseases and complex traits

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Calibrating the Human Mutation Rate via Ancestral Recombination Density in Diploid Genomes

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Monogenic and polygenic inheritance become instruments for clonal selection

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Estimating the effective sample size in association studies of quantitative traits

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Genetic predisposition to mosaic Y chromosome loss in blood is associated with genomic instability in other tissues and susceptibility to non-haematological cancers

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Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

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Mixed Model with Correction for Case-Control Ascertainment Increases Association Power

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Shared Genetic Architecture Of Asthma With Allergic Diseases: A Genome-wide Cross Trait Analysis Of 112,000 Individuals From UK Biobank

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Leveraging polygenic functional enrichment to improve GWAS power

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Combining case-control status and family history of disease increases association power

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Large mosaic copy number variations confer autism risk

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Genomic analyses for age at menarche identify 389 independent signals and indicate BMI-independent effects of puberty timing on cancer susceptibility

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Subtle stratification confounds estimates of heritability from rare variants

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Influences of rare copy number variation on human complex traits

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Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

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Incorporating family history of disease improves polygenic risk scores in diverse populations

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Quantification of genetic components of population differentiation in UK Biobank traits reveals signals of polygenic selection

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Low-frequency variant functional architectures reveal strength of negative selection across coding and non-coding annotations

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Correcting subtle stratification in summary association statistics

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Clonal hematopoiesis and risk of chronic liver disease

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Two variance component model improves genetic prediction in family data sets

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Genes with high network connectivity are enriched for disease heritability

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Quantification of frequency-dependent genetic architectures and action of negative selection in 25 UK Biobank traits

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Learning the mutational landscape of the cancer genome

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Coordinated Interaction: A model and test for globally signed epistasis in complex traits

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The lingering effects of Neanderthal introgression on human complex traits

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A spectrum of recessiveness among Mendelian disease variants in UK Biobank

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Annotations capturing cell-type-specific TF binding explain a large fraction of disease heritability

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The genomic landscape of clonal hematopoiesis in Japan

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Schizophrenia-associated somatic copy number variants from 12,834 cases reveal contribution to risk and recurrent, isoform-specific NRXN1 disruptions

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Mixed Model Association with Family-Biased Case-Control Ascertainment

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Repeat polymorphisms in non-coding DNA underlie top genetic risk loci for glaucoma and colorectal cancer.

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