Robin N. Beaumont

The paper estimates whole-genome heritability of complex traits across diverse populations, finding rare and non-coding variants significantly contribute to heritability.

AlphaGenome Atlas predicts regulatory effects of non-coding variants across the human genome, improving their prioritization and interpretation.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The paper analyzes genome sequencing data from UK Biobank to assess the penetrance of COL1A1/2 pathogenic variants in OI, finding lower penetrance than expected.

The paper tests associations between maternal KIR haplotypes and fetal HLA-C alleles with birth weight in a large sample, finding no significant interactions or replication of previous findings.

This study evaluates control selection strategies in prostate cancer GWAS using UK Biobank data, finding that matched controls balance power and cost but may miss novel associations.

This study uses whole-genome sequencing in 672,976 individuals to show rare and common variants converge in genetic associations for anthropometric traits, with ultra-rare variants explaining less than 10% of heritability.

The paper uses a federated approach to conditionally analyze genetic variants across biobanks, identifying LDL-C lowering effects of DNAJC13 haploinsufficiency and LDLR regulation.

The paper reduces error rates in population-scale whole-genome sequencing by applying genotype-level quality control, demonstrating its effectiveness using UK Biobank and All of Us datasets.

This study examines how genetic variants linked to gestational diabetes affect maternal glucose levels during and after pregnancy, finding consistent associations with fasting glucose but varying effects on postprandial glucose.

The paper introduces vcf2agds, a toolkit converting WGS data to aGDS format, enabling efficient analysis of UK Biobank data and identifying 480 genome-wide significant associations for total cholesterol.

The paper shows that common genetic variants influence disease risk and severity in monogenic diabetes, modifying clinical outcomes in individuals with pathogenic variants.

This study performs a genome-wide association study of T1D stratified by HLA DR3 and DR4 status, revealing genetic and biological heterogeneity in T1D progression.

The paper identifies rare genetic variants associated with birth weight, highlighting genes involved in adipose tissue regulation, placental function, and insulin-like growth factor signaling.

DINGO improves locus discovery in GWAS of perinatal traits by combining maternal and fetal GWAS data through meta-analysis and novel statistical tests, identifying more genetic loci than separate analyses.

The paper identifies clustering patterns of loss-of-function variants in monogenic disease genes, linking them to incomplete penetrance and suggesting localized constraint metrics for variant interpretation.

The paper investigates how rare variants in monogenic developmental disorder genes interact with common variants to affect cognitive and socio-economic traits, finding that higher educational attainment polygenic scores can partially counterbalance adverse effects.

The paper uses whole-genome sequencing data from UK Biobank participants to identify rare non-coding variants and regions associated with circulating protein levels.

This study identifies 40 genetic loci associated with placental weight using GWAS in 179,025 children and parents, revealing shared and distinct genetic influences with fetal growth.

The paper identifies individuals deviating from genetically predicted phenotypes using UK Biobank data and shows they are enriched for rare genetic variants and clinical conditions.

This study identifies genetic loci associated with gestational duration and preterm delivery, showing maternal and fetal genetic effects and antagonistic pleiotropy with birth weight.

The paper estimates penetrance of monogenic diabetes variants across different ascertainment contexts, finding age-related variability for HNF1A/HNF4A variants but consistent penetrance for GCK variants.

This study examines the impact of Mendelian sleep and circadian genetic variants in population cohorts and finds no strong associations with extreme sleep traits, though some variants show minor effects.

This paper uses Mendelian randomization to investigate the causal relationship between maternal serum urate and offspring birthweight, finding a weaker causal effect compared to observational studies.

This paper shows genetic scores explain additional variance in birthweight beyond clinical variables, with maternal and fetal genetic scores adding 6.0% variance when combined.

The paper estimates diagnostic noise in genomic analysis using gene panels by analyzing variant prioritization rates in different panel sizes and disease categories.

The paper identifies genetic variants linked to ovarian ageing and shows they increase offspring de novo mutation rates, demonstrating heritability of female mutation rate.

The paper investigates the phenotypic effects of rare variants in developmental disorder genes in the general population, finding milder related traits in carriers.

This paper identifies a genetic association between NK3R (TACR3) and menopausal vasomotor symptoms (VMS) using GWAS, while finding no link between rare NK3R variants and VMS despite the efficacy of NK3R antagonists.