Duncan S. Palmer

Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants

The paper imputes fluid intelligence scores in a large cohort, reducing ascertainment bias and increasing power to detect genetic associations with common and rare variants.

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

Systematic common and rare variant association testing in 392,030 whole genomes in All of Us

The paper performs large-scale GWAS and RVAS on 392,030 whole genomes from All of Us, identifying 49,863 associations and 193 novel pLoF gene-phenotype links through meta-analysis with UK Biobank.

Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

Individuals whose phenotype deviates from genetic expectation defined by common variation are enriched for rare damaging variants in genes that cause rare disease

The paper identifies rare damaging variants in genes associated with misaligned phenotypes using polygenic scores and enrichment analysis in the UK Biobank.

Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism

The paper identifies cell-type-specific molecular and regulatory changes in D1 striosome medium spiny neurons and astrocytes in ASD using single-nucleus multiomic profiling in human putamen.

Combining evidence from human genetic and functional screens to identify pathways altering obesity and fat distribution

The paper identifies genes associated with obesity and fat distribution using genetic and functional data, then validates their roles through CRISPR knockdown in cell lines.

Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrum

This study identifies 21 infertility loci and over 400 reproductive hormone loci through GWAS across multiple cohorts, finding limited genetic correlation between reproductive hormones and infertility.

UK Biobank release and systematic evaluation of optimised polygenic risk scores for 53 diseases and quantitative traits

The paper releases and evaluates polygenic risk scores for 53 diseases and traits in the UK Biobank and shows they outperform existing scores.

Genome-wide analysis identifies 66 variants underlying anatomical variation in human neuroendocrine structures and reveals links to testosterone

This study identifies 66 genetic variants linked to neuroendocrine structure volumes and links some to testosterone levels using UK Biobank data.

The genetic architecture of changes in adiposity during adulthood

This study identifies six novel genetic loci associated with BMI change over adulthood using UK Biobank health records, finding lower heritability for BMI change compared to baseline BMI.

Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

The paper identifies compound heterozygous variants in UK Biobank data and shows their phenotypic impact on common diseases using statistical phasing and mixed models.

Pan-UK Biobank GWAS improves discovery, analysis of genetic architecture, and resolution into ancestry-enriched effects

Meta-analyzing per-ancestry GWAS of 7,266 UK Biobank traits across six genetic ancestry groups adds 14,676 loci missed by European-only analysis, including ancestry-enriched CAMK2D and G6PD signals.

Analysis of genetic dominance in the UK Biobank

The paper evaluates dominance effects in over 1,000 UK Biobank phenotypes using GWAS, finding no significant dominance contribution to phenotypic variance from common variation.

Genome-wide association study of school grades identifies a genetic overlap between language ability, psychopathology and creativity

This study identifies genetic overlaps between psychiatric disorders, language ability, and creativity through a GWAS of school grades.

Systematic single-variant and gene-based association testing of thousands of phenotypes in 426,370 UK Biobank exomes

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

The female protective effect against autism spectrum disorder

The paper investigates the female protective effect against autism spectrum disorder by analyzing genetic risk in siblings and parents of ASD cases, finding evidence of sex differences in inherited genetic risk.

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

A data harmonization pipeline to leverage external controls and boost power in GWAS

This paper presents a data harmonization pipeline for GWAS that improves power by integrating external controls and reduces batch effects, demonstrating its effectiveness in a Crohn's disease study.

The impact of non-additive genetic associations on age-related complex diseases.

This study applies an improved GWAS strategy to age-related diseases, identifying new genetic loci by using multiple reference panels, analyzing the X chromosome, and testing non-additive models.

Multi-Ancestry Meta-Analysis yields novel genetic discoveries and ancestry-specific associations

This paper introduces MAMA, a method for multi-ancestry GWAS meta-analysis, which identifies novel genetic associations and improves power across populations.

Exome sequencing in bipolar disorder reveals shared risk gene AKAP11 with schizophrenia

The paper reports exome sequencing findings in bipolar disorder, identifying AKAP11 as a shared risk gene with schizophrenia through ultra-rare protein-truncating variants.

Predicting Functional Effects of Missense Variants in Voltage-Gated Sodium and Calcium Channels

The paper predicts functional effects of missense variants in voltage-gated sodium and calcium channels using machine learning, achieving high accuracy in distinguishing gain and loss of function variants.

Mapping the drivers of within-host pathogen evolution using massive data sets

The paper develops a Bayesian method to detect host influences on pathogen evolution using large datasets, demonstrating improved precision in identifying HLA-induced selection in HIV-1.

Common risk variants identified in autism spectrum disorder

This study identifies five genome-wide significant loci and seven shared with other traits in a large ASD GWAS, highlighting polygenic heterogeneity and the value of large-scale GWAS in ASD.

Disentangling genetically confounded polygenic associations between Attention-Deficit/Hyperactivity Disorder, literacy and language

The paper investigates polygenic associations between ADHD and literacy/language abilities, finding that genetic confounding with educational attainment masks ADHD-specific reading impairments.

Discovery Of The First Genome-Wide Significant Risk Loci For ADHD

Genome-wide association meta-analysis of 20,183 ADHD cases and 35,191 controls finds 12 significant loci; signal concentrates in conserved regions, constrained genes, and CNS regulatory elements.

GWAS meta-analysis highlights the hypothalamic-pituitary-gonadal axis (HPG axis) in the genetic regulation of menstrual cycle length

This study performs a GWAS meta-analysis of menstrual cycle length in European women, confirming the FSHB locus association and identifying four novel signals linked to the HPG axis.

ASD and ADHD have a similar burden of rare protein-truncating variants

The paper investigates the genetic burden of rare protein-truncating variants in ASD and ADHD, finding similar patterns of enrichment.