Cecilia M. Lindgren

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.

Biologically-Inspired Digital Histology for Deep Phenotyping of Placental Composition Changes Across Major Lesion Types

The paper uses a deep learning pipeline to analyze placental histology and identifies cellular and structural changes across different lesion types.

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.

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.

Altered Hormone and Bioactive Lipid Plasma Profile in Rodent Models of Polycystic Ovarian Syndrome Revealed by Targeted Mass Spectrometry

This study identifies altered plasma lipid profiles in rodent PCOS models using targeted mass spectrometry, revealing both similarities and differences compared to human PCOS.

Genome-wide association analysis reveals insights into the molecular aetiology underlying dilated cardiomyopathy

This study identifies 80 genetic loci and 61 effector genes associated with dilated cardiomyopathy through GWAS and integrates transcriptomic data to uncover biological pathways and cellular states involved in the disease.

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.

Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

Pregnancy-Associated Bleeding and Genetics: Five Sequence Variants in the Myometrium and Progesterone Signaling Pathway are associated with postpartum hemorrhage

The paper identifies five genetic loci associated with postpartum hemorrhage through a meta-analysis and links them to progesterone receptor binding sites and related traits.

Discovering cellular programs of intrinsic and extrinsic drivers of metabolic traits using LipocyteProfiler

The paper introduces LipocyteProfiler, a high-throughput microscopy assay to profile lipid-storing cells and identifies cellular programs linked to metabolic traits like insulin resistance and lipodystrophy.

HAPPY: A deep learning pipeline for mapping cell-to-tissue graphs across placenta histology whole slide images

HAPPY quantifies cell and tissue variability in placenta histology images, providing metrics that align with clinical experts and reveal deviations in placental infarction.

The role of obesity in female reproductive conditions: A Mendelian Randomisation Study

This study uses Mendelian randomisation to investigate the causal effects of obesity on female reproductive conditions, finding that central obesity and metabolic hormones mediate these associations.

Making sense of the linear genome, gene function and TADs

The paper investigates the functional relationships of genes within TADs, finding that genes in CTCF-bound TADs are not more co-expressed or functionally similar than expected by proximity, but functionally important genes are more likely to occupy TADs alone.

Mechanisms of DNA repair have evolved to minimise the probability of nonsense mutations.

This study shows that DNA repair mechanisms in mice reduce the rate of nonsense mutations by prioritizing substitutions that are more deleterious to fitness.

Genome-wide study identifies association between HLA-B*55:01 and penicillin allergy

The paper identifies HLA-B*55:01 as a genetic risk factor for penicillin allergy through genome-wide analysis of electronic health records and imputed HLA data.

Machine Learning based histology phenotyping to investigate epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits

The paper develops a deep learning method for adipocyte phenotyping and finds adipocyte area correlates with BMI but no genome-wide significant genetic associations.

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

Colocalization highlights genes in hypothalamic-pituitary-gonadal axis as potentially mediating polycystic ovary syndrome risk

This study uses Bayesian colocalization to identify genes potentially mediating polycystic ovary syndrome risk by linking genetic risk loci to intermediate phenotypes.

A polygenic and phenotypic risk prediction for Polycystic Ovary Syndrome evaluated by Phenome-wide association studies

This study develops a polygenic and phenotypic risk score for PCOS using EHR data, showing improved detection and identifying shared metabolic and endocrine comorbidities.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

Leveraging biobank-scale rare and common variant analyses to identify ASPHD1 as the main driver of reproductive traits in the 16p11.2 locus

The paper identifies ASPHD1 as a key driver of reproductive traits in the 16p11.2 locus using biobank data, Mendelian randomization, and animal models.

Genome-wide association study provides new insights into the genetic architecture and pathogenesis of heart failure

This study conducts a large GWAS on heart failure, identifying 12 genetic loci with associations to CAD, atrial fibrillation, and reduced left ventricular function, and provides causal evidence for several risk factors.

Tolerance of nonsynonymous variation is closely correlated between human and mouse orthologues

The paper estimates intraspecific constraint for mouse genes and shows strong correlation with human orthologues, linking constraint to pleiotropy and Mendelian disease.

The genetic architecture of sporadic and recurrent miscarriage

This study identifies genetic variants associated with sporadic and recurrent miscarriage through large-scale association analyses and Mendelian randomization.

Lifelong genetically lowered sclerostin and risk of cardiovascular disease.

This study finds that genetically or therapeutically lowering sclerostin increases cardiovascular risk, based on genetic variant analysis and clinical trial data.

Trans-ethnic genome-wide association study provides insight into effector genes and molecular mechanisms for kidney function and highlights a causal effect on kidney-specific disease aetiologies

This study identifies 93 genetic loci associated with kidney function across four ancestry groups and highlights causal effects on kidney-related diseases.

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.