Jennifer E. Below
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View article: Excess Adiposity Without Obesity in a High-Risk Population
Excess Adiposity Without Obesity in a High-Risk Population Open
This cross-sectional study estimates excess adiposity in Mexican-American individuals with and without obesity enrolled in the Cameron County Hispanic Cohort.
View article: Genome-wide association study provides novel insight into the genetic architecture of severe obesity
Genome-wide association study provides novel insight into the genetic architecture of severe obesity Open
Severe obesity (SevO) is a primary driver of cardiovascular diseases (CVD), cardiometabolic diseases (CMD) and several cancers, with a disproportionate impact on marginalized populations. SevO is an understudied global health disease, limi…
View article: Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits
Large-scale multi-omics analyses in Hispanic/Latino populations identify genes for cardiometabolic traits Open
Here, we present a multi-omics study of type 2 diabetes and quantitative blood lipid and lipoprotein traits conducted to date in Hispanic/Latino populations (nmax = 63,184). We conduct a meta-analysis of 16 type 2 diabetes and 19 lipid tra…
View article: Molecular architecture of human atherosclerosis revealed through integrative human genetics
Molecular architecture of human atherosclerosis revealed through integrative human genetics Open
Current genetic discovery methods are largely restricted to profiling circulating molecules or genetic architecture, limited in use of tissue-based molecular genetics to identify pathogenic and therapeutic targets. Here, we leverage a mult…
View article: Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height
Insights from the largest diverse ancestry sex-specific disease map for genetically predicted height Open
We performed ancestry and sex specific Phenome Wide Association Studies (PheWAS) to explore disease related outcomes associated with genetically predicted height. This is the largest PheWAS on genetically predicted height involving up to 8…
View article: Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report
Whole Genome Sequencing of Pedigrees With High Density of Substance Use and Psychiatric Disorders: A Meeting Report Open
The National Institute of Drug Abuse convened a panel of scientists with expertise in substance use disorders (SUD) and genetic methodologies primarily to determine the feasibility of performing whole genome sequencing utilizing existing p…
View article: Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects
Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effects Open
View article: A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver
A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver Open
View article: A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver
A prognostic molecular signature of hepatic steatosis is spatially heterogeneous and dynamic in human liver Open
View article: Human metabolic chambers reveal a coordinated metabolic-physiologic response to nutrition
Human metabolic chambers reveal a coordinated metabolic-physiologic response to nutrition Open
Human studies linking metabolism with organism-wide physiologic function have been challenged by confounding, adherence, and precisionHere, we united physiologic and molecular phenotypes of metabolism during controlled dietary intervention…
View article: Brain and Blood Transcriptome-Wide Association Studies Identify Five Novel Genes Associated with Alzheimer’s Disease
Brain and Blood Transcriptome-Wide Association Studies Identify Five Novel Genes Associated with Alzheimer’s Disease Open
INTRODUCTION Transcriptome-wide Association Studies (TWAS) extend genome-wide association studies (GWAS) by integrating genetically-regulated gene expression models. We performed the most powerful AD-TWAS to date, using summary statistics …
View article: Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations
Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations Open
View article: Genetic risk converges on regulatory networks mediating early type 2 diabetes
Genetic risk converges on regulatory networks mediating early type 2 diabetes Open
View article: Machine‐learning based classification of Frontotemporal dementia in electronic health records for genetic discovery
Machine‐learning based classification of Frontotemporal dementia in electronic health records for genetic discovery Open
Background Frontotemporal dementia (FTD) is a neurodegenerative syndrome characterized by distinct subtypes, each with unique clinical presentations and varying neuropathologic features. Although FTD is highly heritable, it is frequently u…
View article: Improving gene expression prediction models through the use of meta‐analysis summary statistics
Improving gene expression prediction models through the use of meta‐analysis summary statistics Open
Background By focusing on a gene‐level rather than a single‐variant basis, transcriptome‐wide association studies (TWAS) assess the role of genetically regulated gene expression in disease risk and improve statistical power by reducing the…
View article: Both clinically informed and brain region agnostic approaches identify neuroimaging derived phenotypes associated with genetically regulated gene expression of late‐onset Alzheimer’s disease genes
Both clinically informed and brain region agnostic approaches identify neuroimaging derived phenotypes associated with genetically regulated gene expression of late‐onset Alzheimer’s disease genes Open
Background Genetically regulated gene expression (GReX) data leverages expression quantitative trait loci to investigate the genetic mechanism of Alzheimer’s disease (AD). This study utilized the GReX‐mediated neuro‐imaging derived phenoty…
View article: Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome
Detection of distant relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT Syndrome Open
Rare genetic diseases are typically studied in referral populations, resulting in underdiagnosis and biased assessment of penetrance and phenotype. To address this, we developed a generalizable method of genotype inference based on distant…
View article: An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer’s Disease
An X Chromosome Transcriptome Wide Association Study Implicates ARMCX6 in Alzheimer’s Disease Open
Background The X chromosome is often omitted in disease association studies despite containing thousands of genes which may provide insight into well-known sex differences in the risk of Alzheimer’s Disease. Objective To model the expressi…
View article: Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations
Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations Open
Polygenic risk scores (PRS) have improved in predictive performance supporting their use in clinical practice. Reduced predictive performance of PRS in diverse populations can exacerbate existing health disparities. The NHGRI-funded eMERGE…
View article: BS-452757-1 NOVEL PRECISION GENETIC APPROACH IMPROVES DIAGNOSIS AND RISK STRATIFICATION IN LONG QT SYNDROME TYPE 5
BS-452757-1 NOVEL PRECISION GENETIC APPROACH IMPROVES DIAGNOSIS AND RISK STRATIFICATION IN LONG QT SYNDROME TYPE 5 Open
View article: Discovery of 36 loci significantly associated with stuttering
Discovery of 36 loci significantly associated with stuttering Open
Developmental stuttering is a common speech disorder (studies estimate at least a 5% lifetime prevalence) characterized by prolongations, blocks, and repetitions of speech sounds. In approximately 75–80% of cases in early childhood, stutte…
View article: Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome
Detection of distant familial relatedness in biobanks for identification of undiagnosed carriers of a Mendelian disease variant: application to Long QT syndrome Open
Importance The diagnosis and study of rare genetic disease is often limited to referral populations, leading to underdiagnosis and a biased assessment of penetrance and phenotype. Objective To develop a generalizable method of genotype inf…
View article: A haptoglobin (HP) structural variant alters the effect of <i>APOE</i> alleles on Alzheimer's disease
A haptoglobin (HP) structural variant alters the effect of <i>APOE</i> alleles on Alzheimer's disease Open
Background Haptoglobin (HP) is an antioxidant of apolipoprotein E ( APOE ), and previous reports have shown HP binds with APOE and amyloid beta (Aβ) to aid its clearance. A common structural variant of the HP gene distinguishes it into two…
View article: The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits
The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits Open
View article: Genome-wide association study identifies novel risk loci for apical periodontitis
Genome-wide association study identifies novel risk loci for apical periodontitis Open
View article: IMMerge: merging imputation data at scale
IMMerge: merging imputation data at scale Open
SUMMARY: Genomic data are often processed in batches and analyzed together to save time. However, it is challenging to combine multiple large VCFs and properly handle imputation quality and missing variants due to the limitations of availa…
View article: Hecht Paper _ FigShare _ Mutant Sequences.pdf
Hecht Paper _ FigShare _ Mutant Sequences.pdf Open
Sanger sequencing validation of designed point mutants
View article: Challenges and strategies for recruitment of minorities to clinical research and trials
Challenges and strategies for recruitment of minorities to clinical research and trials Open
Minority populations are largely absent from clinical research trials. The neglect of these populations has become increasingly apparent, with escalating cancer burdens and chronic disease. The challenges to recruitment of minorities in th…
View article: PDGFRA Mutant Sequence Validation.pdf
PDGFRA Mutant Sequence Validation.pdf Open
Sanger Sequencing traces confirming the cloning of specific point mutants
View article: Low Educational Attainment is Associated with Type 2 Diabetes in a Disadvantaged Mexican American Border Population
Low Educational Attainment is Associated with Type 2 Diabetes in a Disadvantaged Mexican American Border Population Open