Anne E. Justice

COMPREHENSIVE GENETIC INVESTIGATION REVEALS HETEROGENEOUS PATHWAYS TO OBSTRUCTIVE SLEEP APNEA

This study identifies 14 genome-wide significant loci for obstructive sleep apnea, including three independent of BMI, and highlights genetic pathways involving obesity, neurological, and craniofacial factors.

Integrating Genetic and Transcriptomic Data to Identify Genes Underlying Obesity Risk Loci

The paper identifies genes associated with obesity risk loci by integrating genetic and transcriptomic data from blood and brain tissues.

Genome-wide association study provides novel insight into the genetic architecture of severe obesity.

This study identifies novel genetic signals associated with severe obesity through GWAS and shows strong genetic overlap with BMI, highlighting shared comorbidities and lifestyle interactions.

Phenotypic Findings Associated with Variation in Elastin

The paper investigates the phenotypic effects of ELN gene variants using exome data and phenotyping, finding associations with connective tissue disorders beyond known conditions.

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.

Whole genome association testing in 333,100 individuals across three biobanks identifies rare non-coding single variant and genomic aggregate associations with height

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits - the Hispanic/Latino Anthropometry Consortium

This study identifies novel genetic loci for BMI, height, and WHRadjBMI in Hispanic/Latino populations and shows the benefits of ancestral diversity in GWAS.

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.

Recovery of trait heritability from whole genome sequence data

The paper estimates heritability for height and BMI using whole-genome sequence data and finds that rare variants contribute significantly to the missing heritability.

Generalizability of Polygenic Risk Scores for Breast Cancer in the Multiethnic eMERGE Study

The paper evaluates the generalizability of breast cancer polygenic risk scores across three ancestral groups using the eMERGE dataset, finding good performance in LatinX but not African ancestry women.

Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL Study

This study identifies genetic variants associated with body fat distribution traits in Hispanics/Latinos and finds ancestry-specific associations.

Within-sibship GWAS improve estimates of direct genetic effects

In 159,701 siblings from 17 cohorts, population GWAS overstate direct effects on height, education, smoking, cognition, depressive symptoms and age at first birth; clinical traits mostly agree across models.

Exome-by-phenome-wide rare variant gene burden association with electronic health record phenotypes

This study identifies robust gene-phenotype associations by analyzing rare loss-of-function variants in exome-wide data linked to electronic health records.

Methylome-Wide Association Study Of Central Adiposity Implicates Genes Involved In Immune And Endocrine Systems

This study identifies DNA methylation sites associated with central adiposity traits in adults and adolescents using methylome-wide association analyses across multiple cohorts.

A genome-wide association study of polycystic ovary syndrome identified from electronic health records

This paper identifies novel genetic variants associated with PCOS using EHR-based GWAS and validates them in independent cohorts.

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

Refining The Accuracy Of Validated Target Identification Through Coding Variant Fine-Mapping In Type 2 Diabetes

This study identifies 16 causal coding variants in type 2 diabetes using fine-mapping and shows that one third of signals are false leads.

Genetic Identification Of A Common Collagen Disease In Puerto Ricans Via Identity-By-Descent Mapping In A Health System

The paper identifies a common collagen disease in Puerto Ricans using identity-by-descent mapping and genomic data from a health system.