Ashley Jermusyk
- Pancreatic and Hepatic Oncology Research
- Epigenetics and DNA Methylation
- Genetic Associations and Epidemiology
- Adipose Tissue and Metabolism
- Cancer Genomics and Diagnostics
- Gene Regulatory Network Analysis
- RNA Research and Splicing
- Nutrition, Genetics, and Disease
- Bioinformatics and Genomic Networks
- Single-cell and spatial transcriptomics
- Skin Protection and Aging
- Viral Infectious Diseases and Gene Expression in Insects
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Carcinogens and Genotoxicity Assessment
- RNA Interference and Gene Delivery
- Pancreatic function and diabetes
- Advanced biosensing and bioanalysis techniques
- Plant Molecular Biology Research
- melanin and skin pigmentation
- Evolutionary Algorithms and Applications
- CRISPR and Genetic Engineering
- Diet and metabolism studies
- Developmental Biology and Gene Regulation
- Genomics and Chromatin Dynamics
Division of Cancer Epidemiology and Genetics
2017-2025
National Cancer Institute
2017-2024
North Carolina State University
2015-2020
National Institutes of Health
2018-2020
Abstract Background Although 20 pancreatic cancer susceptibility loci have been identified through genome-wide association studies in individuals of European ancestry, much its heritability remains unexplained and the genes responsible largely unknown. Methods To discover novel risk possible causal genes, we performed a transcriptome-wide study Europeans using three approaches: FUSION, MetaXcan, Summary-MulTiXcan. We integrated summary statistics from 9040 cases 12 496 controls, with gene...
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts revealed 19 independent signals trait; however, mechanism action these loci remains to be elucidated. To molecularly characterize loci, we sought determine underlying causal variants corresponding effector genes within...
Objective To elucidate the genetic architecture of gene expression in pancreatic tissues. Design We performed quantitative trait locus (eQTL) analysis histologically normal tissue samples (n=95) using RNA sequencing and corresponding 1000 genomes imputed germline genotypes. Data from tumour-derived (n=115) The Cancer Genome Atlas were included for comparison. Results identified 38 615 cis -eQTLs (in 484 genes) tissues 39 713 -eQTL 237 (false discovery rate <0.1), with strongest effects...
ABSTRACT A portion of the genetic basis for many common autoimmune disorders has been uncovered by genome-wide association studies (GWAS), but GWAS do not reveal causal variants, effector genes, or cell types impacted disease-associated variation. We have generated 3D genomic datasets consisting promoter-focused Capture-C, Hi-C, ATAC-seq, and RNA-seq integrated these data with 16 traits to physically map variants genes they likely regulate in 57 human types. These maps gene cis -regulatory...
A complex network of gene interactions controls regulation throughout development and the life organisms. Insights can be made into these processes by studying functional (or “motifs”) which make up networks. We sought to understand functionality one motifs, negative feedback, in a multi-cellular system. This was accomplished using synthetic expressed Drosophila melanogaster embryo yeast proteins Gal4 (a transcriptional activator) Gal80 (an inhibitor activity). is able produce an attenuation...
Pancreatic Ductal Adenocarcinoma (PDAC) is the third leading cause of cancer-related deaths in United States with a 5-year survival rate only 8%. Inherited predisposition plays an important role PDAC risk. Rare, moderately to highly penetrant mutations hereditary cancer and pancreatitis genes, identified families high incidence disease, account for small fraction cases. At other end spectrum, common risk variants low penetrance have been discovered through genome-wide association studies...
Advancements in the field of synthetic biology have been possible due to development genetic tools that are able regulate gene expression. However, current toolbox regulatory for eukaryotic systems outpaced by those developed simple, single-celled systems. Here, we engineered a set combining self-cleaving ribozymes with various upstream competing sequences were designed disrupt ribozyme self-cleavage. As proof-of-concept, modulate GFP expression mammalian cells, and then showed feasibility...
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts revealed 19 independent signals trait; however, mechanism action these loci remains to be elucidated. To molecularly characterize we sought determine underlying causal variants corresponding effector genes within diverse...
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts revealed 19 independent signals trait; however, mechanism action these loci remains to be elucidated. To molecularly characterize loci, we sought determine underlying causal variants corresponding effector genes within...
Abstract Identification of somatic driver mutations in the noncoding genome remains challenging. To comprehensively characterize for pancreatic ductal adenocarcinoma (PDAC), we first created genome-scale maps accessible chromatin regions (ACRs) and histone modification marks (HMMs) cell lines purified acinar duct cells. Integration with whole-genome mutation calls from 506 PDACs revealed 314 ACRs/HMMs significantly enriched 3,614 (NCSMs). Functional assessment using massively parallel...
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts revealed 19 independent signals trait; however, mechanism action these loci remains to be elucidated. To molecularly characterize we sought determine underlying causal variants corresponding effector genes within diverse...
The prevalence of childhood obesity is increasing worldwide, along with the associated common comorbidities type 2 diabetes and cardiovascular disease in later life. Motivated by evidence for a strong genetic component, our prior genome-wide association study (GWAS) efforts revealed 19 independent signals trait; however, mechanism action these loci remains to be elucidated. To molecularly characterize we sought determine underlying causal variants corresponding effector genes within diverse...
Abstract Pancreatic Ductal Adenocarcinoma (PDAC) is the third leading cause of cancer-related deaths in United States with a 5-year survival rate only 8%. Inherited predisposition plays an important role PDAC risk. Rare, moderately to highly penetrant mutations hereditary cancer and pancreatitis genes, identified families high incidence disease, account for small fraction cases. At other end spectrum, common risk variants low penetrance have been discovered through genome-wide association...
Abstract Objective: To elucidate the genetic architecture of gene expression in pancreatic tissues. Design: We performed quantitative trait locus (eQTL) and allele specific (ASE) analyses using RNA-sequence data 1000 Genomes (1000G) imputed GWAS genotypes from 95 fresh frozen histologically normal tissue samples. Data 115 tumor-derived samples The Cancer Genome Atlas (TCGA) was included for comparison. Results: identified 38,615 cis-eQTLs (corresponding to 484 Genes) tissues 39,713 cis-eQTL...
Abstract The anterior-posterior axis of the developing Drosophila melanogaster embryo is patterned by a well-studied gene regulatory network called Gap Gene Network. This acts to buffer pattern against noise, thereby minimizing errors in expression and preventing patterning defects. In this paper, we sought discover novel regions transcription factors acting subset using selection wild-caught fly lines derived from Genetic Reference Panel (DGRP). DGRP contain subtle genomic differences due...