Jessica Tyrrell

A rare-variant analysis of FADS-related metabolites in Major Depression

This study analyzes rare variants in the FADS region and their associations with metabolites and Major Depression using genome-wide sequencing data from large cohorts.

Clustering of major depressive disorder genetic instruments identifies distinct and directionally opposing effects on cardiometabolic risk

This study uses MR-Clust to identify three MDD genetic clusters with opposing effects on T2D and cardiometabolic risk, linking them to distinct biological pathways and depression subtypes.

Colorectal cancer risk stratification using a polygenic risk score in symptomatic patients presenting to primary care -- a UK Biobank retrospective cohort study

This paper develops a polygenic risk score model to predict colorectal cancer risk in symptomatic patients using UK Biobank data, achieving high predictive accuracy.

Identification and analysis of individuals who deviate from their genetically-predicted phenotype

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.

Influence of family history on penetrance of hereditary cancers in a population setting

The paper examines how family history affects cancer penetrance in individuals with pathogenic variants, finding higher risks with family history for BRCA1/2 and Lynch syndrome.

Evaluating the effect of metabolic traits on oral and oropharyngeal cancer risk using Mendelian randomization

This study uses Mendelian randomization to assess the causal effect of obesity and related metabolic traits on oral and oropharyngeal cancer risk, finding limited evidence of a direct causal link.

The penetrance of age-related monogenic disease depends on ascertainment context

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.

The impact of Mendelian sleep and circadian genetic variants in a population setting

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.

Genomic insights into the mechanism of NK3R antagonists for treatment of menopausal vasomotor symptoms

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.

Investigating the effect of sexual behaviour on oropharyngeal cancer risk: a methodological assessment of Mendelian randomization

This study uses Mendelian randomization to assess the causal effect of sexual behavior on oropharyngeal cancer risk, finding attenuated associations after adjusting for confounders.

Fetal alleles predisposing to metabolically favourable adiposity are associated with higher birth weight

The paper examines the effect of fetal genetic predispositions to metabolically favourable adult adiposity and BMI on birth weight and other anthropometric traits, finding stronger associations with birth weight for the adiposity alleles.

Higher maternal adiposity reduces offspring birth weight if associated with a metabolically favourable profile

This study uses Mendelian Randomisation to show that maternal metabolically favourable adiposity is associated with lower offspring birth weight compared to general adiposity indexed by BMI.

Genetic Association Study of Childhood Aggression across raters, instruments and age

This study conducts a genome-wide association meta-analysis of childhood aggression across multiple raters, instruments, and ages, identifying genetic correlations with various traits but no genome-wide significant SNPs.

Genetic predictors of participation in optional components of UK Biobank

The paper identifies genetic variants and phenotypes associated with participation in optional UK Biobank components and shows common participation bias across studies.

Assessing the analytical validity of SNP-chips for detecting very rare pathogenic variants: implications for direct-to-consumer genetic testing

This study evaluates SNP-chip accuracy for detecting rare pathogenic variants and finds low precision for very rare variants, highlighting risks for DTC genetic testing.

Genome-wide association analysis of excessive daytime sleepiness identifies 42 loci that suggest phenotypic subgroups

This study identifies 42 genetic loci associated with excessive daytime sleepiness and links them to phenotypic subgroups and related traits.

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

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

GWAS in 446,118 European adults identifies 78 genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates

Biological and clinical insights from genetics of insomnia symptoms

The paper identifies 57 genomic regions associated with insomnia symptoms, linking them to phototransduction, ubiquitination, and potential causal relationships with coronary heart disease and depression.

Assessing the pathogenicity, penetrance and expressivity of putative disease-causing variants in a population setting

This study uses UK Biobank data to assess the penetrance and pathogenicity of rare variants, finding reduced penetrance and variable expressivity for some clinically relevant variants.

GWAS identifies novel risk locus for erectile dysfunction and implicates hypothalamic neurobiology and diabetes in etiology

A GWAS of erectile dysfunction identifies a new locus at 6q16.3, implicating hypothalamic neurobiology and diabetes in its etiology.

Genetic studies of accelerometer-based sleep measures in 85,670 individuals yield new insights into human sleep behaviour

This study identifies 47 genetic associations with sleep traits using accelerometer data from 85,670 individuals, including novel variants for sleep quality and duration.

Genome-wide association analyses of chronotype in 697,828 individuals provides new insights into circadian rhythms in humans and links to disease

This study identifies 351 new genetic loci associated with chronotype using data from 697,828 individuals and links them to circadian biology and disease.

Meta-analysis of genome-wide association studies for body fat distribution in 694,649 individuals of European ancestry

Meta-analysis of waist-to-hip ratio adjusted for BMI in 694,649 European-ancestry individuals identifies 463 signals in 346 loci, roughly one-third sexually dimorphic and mostly stronger in women.

Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases

This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.

Evidence of a common causal relationship between body mass index and inflammatory skin disease: a Mendelian Randomization study

This study uses Mendelian Randomization to show that higher BMI causally increases the risk of psoriasis and eczema, with a stronger effect on psoriasis.

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

A common allele in FGF21 associated with preference for sugar consumption lowers body fat in the lower body and increases blood pressure

A common FGF21 allele is associated with lower body fat in the lower body, higher blood pressure, and increased carbohydrate intake in a large human cohort.

Red Blood Cell Distribution Width: genetic evidence for aging pathways in 116,666 volunteers

This study identifies genetic variants associated with red blood cell distribution width (RDW) in 166,666 UK Biobank volunteers, linking RDW to aging-related pathways and health outcomes.

Quantifying the extent to which index event biases influence large genetic association studies

This study quantifies index event bias in large genetic association studies and finds it can explain some associations between disease risk alleles and BMI.