Eric Jorgenson

Genomic ascertainment of CHEK2-related cancer predisposition

This study quantifies cancer risk and penetrance in CHEK2 heterozygotes using genomic data from two large biobanks, finding increased risks for several cancers and younger age of onset.

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood

The paper identifies genetic and phenotypic correlates of mosaic loss of chromosome Y in blood using whole genome sequencing data from the TOPMed program.

Rare coding variants in CHRNB2 reduce the likelihood of smoking

The paper identifies rare coding variants in CHRNB2 associated with reduced smoking likelihood and links them to downstream smoking-related phenotypes.

Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study

The paper genotypes and sequences 140,000 adults from the Mexico City Prospective Study, revealing ancestry diversity and developing imputation resources for genetic studies.

MiXcan: a Framework for Cell-Type-Specific Transcriptome-Wide Association Studies with an Application to Breast Cancer

MiXcan performs cell-type-specific transcriptome-wide association studies, identifying more breast cancer susceptibility genes than conventional methods by considering cell-type heterogeneity.

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

Assessment of Genetic Susceptibility to Multiple Primary Cancers through Whole-Exome Sequencing in Two Large Multi-Ancestry Studies

This study identifies 22 genetic variant-phenotype associations linked to multiple primary cancers using whole-exome sequencing in two large multi-ancestry cohorts.

Exome sequencing of 628,388 individuals identifies common and rare variant associations with clonal hematopoiesis phenotypes

This study uses exome sequencing of 628,388 individuals to identify genetic variants associated with clonal hematopoiesis and its health outcomes.

GLIS1 regulates trabecular meshwork function and intraocular pressure and is associated with glaucoma in humans

This study shows GLIS1 regulates trabecular meshwork function and intraocular pressure, with a human variant linked to glaucoma.

A multiethnic GWAS meta-analysis of 585,243 individuals identifies new risk loci associated with cataract and reveals sex-specific effects

This study identifies 54 new genetic risk loci for cataract through a multiethnic GWAS meta-analysis and finds sex-specific effects and gene expression relevance in mouse models.

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank Optical Coherence Tomography images

The paper identifies 46 genetic loci associated with retinal thickness using OCT images from UK Biobank, finding new links to foveal hypoplasia and visual acuity.

A large-scale transcriptome-wide association study (TWAS) of ten blood cell phenotypes reveals complexities of TWAS fine-mapping

This paper performs a large-scale TWAS of blood cell phenotypes, identifies 239 gene-trait associations, and develops an R Shiny app to visualize TWAS results.

Cross-Cancer Evaluation of Polygenic Risk Scores for 17 Cancer Types in Two Large Cohorts

This study evaluates polygenic risk scores across 17 cancer types in two large cohorts, identifying cross-cancer associations and non-cancer phenotype links.

Association Study of Over 200,000 Subjects Detects Novel Rare Variants, Functional Elements, and Polygenic Architecture of Prostate Cancer Susceptibility

This study identifies six novel genetic loci, including two rare variants, and shows that a polygenic risk score strongly predicts prostate cancer risk.

Pan-Cancer Study Detects Novel Genetic Risk Variants and Shared Genetic Basis in Two Large Cohorts

The paper conducts pan-cancer GWAS in two cohorts, identifying novel risk variants and shared genetic basis across 18 cancer types.

Trans-ethnic and ancestry-specific blood-cell genetics in 746,667 individuals from 5 global populations

This study identifies 5,552 blood-cell trait-variant associations across 746,667 individuals from 5 global populations, including 71 novel loci and ancestry-specific variants not found in European ancestry populations.

The Polygenic and Monogenic Basis of Blood Traits and Diseases

This study identifies 5,106 new genetic variants associated with blood cell traits using large-scale GWAS, highlighting the polygenic and monogenic basis of hematopoiesis.

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

This study identifies traits associated with polygenic risk for depression using UK Biobank data and finds causal links between depression risk and brain structure, as well as environmental interactions.

A large cross-ancestry meta-analysis of genome-wide association studies identifies 69 novel risk loci for primary open-angle glaucoma and includes a genetic link with Alzheimer's disease

Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

This study uses TOPMed whole genome sequences to improve imputation quality and detect rare variant associations in admixed African and Hispanic/Latino populations, identifying two novel associations with hematological traits.

Variably methylated regions in the newborn epigenome: environmental, genetic and combined influences

The paper examines how genetic and environmental factors influence DNA methylation at variably methylated regions in neonatal blood, finding that combined effects best explain methylation variability.

Applying polygenic risk scoring for psychiatric disorders to a large family with Bipolar Disorder and Major Depressive Disorder

The paper applies polygenic risk scoring to a large family with bipolar and depressive disorders to study genetic risk patterns and anticipation.

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression

Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.