Shannon Dugan‐Perez
A5083346653- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Chronic Obstructive Pulmonary Disease (COPD) Research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Cancer-related molecular mechanisms research
- Sarcoma Diagnosis and Treatment
- Asthma and respiratory diseases
- Cancer Genomics and Diagnostics
- Parkinson's Disease Mechanisms and Treatments
- T-cell and B-cell Immunology
- Gallbladder and Bile Duct Disorders
- Bioinformatics and Genomic Networks
- Lysosomal Storage Disorders Research
- Lipoproteins and Cardiovascular Health
- Pediatric Hepatobiliary Diseases and Treatments
- Cancer-related gene regulation
- Genetic Mapping and Diversity in Plants and Animals
- Genetic Syndromes and Imprinting
- Autism Spectrum Disorder Research
- HIV Research and Treatment
- Peroxisome Proliferator-Activated Receptors
- Cholesterol and Lipid Metabolism
Baylor College of Medicine
2014-2025
Baylor Genetics
2014-2025
Neurological Research Institute
2022
University of Maryland, Baltimore
2022
Texas Children's Hospital
2022
Beth Israel Deaconess Medical Center
2021
Several cancer-susceptibility syndromes are reported to underlie pediatric rhabdomyosarcoma (RMS); however, our knowledge there have been no systematic efforts characterize the heterogeneous genetic etiologies of this often-fatal malignancy.We performed exome-sequencing on germline DNA from 615 patients with newly diagnosed RMS consented through Children's Oncology Group. We compared prevalence cancer predisposition variants in 63 autosomal-dominant genes these population controls (n =...
Abstract Mitochondria carry their own circular genome and disruption of the mitochondrial is associated with various aging-related diseases. Unlike nuclear genome, DNA (mtDNA) can be present at 1000 s to 10,000 copies in somatic cells variants may exist a state heteroplasmy, where only fraction molecules harbors particular variant. We quantify mtDNA heteroplasmy 194,871 participants UK Biobank find that 1.5-fold increased risk all-cause mortality. Additionally, we functionally characterize...
Importance Determining the impact of germline cancer-predisposition variants (CPVs) on outcomes could inform novel approaches to testing and treating children with rhabdomyosarcoma. Objective To assess whether CPVs are associated outcome among Design, Setting, Participants In this cohort study, data were obtained for individuals, aged 0.01-23.23 years, newly diagnosed rhabdomyosarcoma who treated across 171 Children’s Oncology Group sites from March 15, 1999, December 8, 2017. Data analysis...
Abstract Chronic obstructive pulmonary disease (COPD), diagnosed by reduced lung function, is a leading cause of morbidity and mortality. We performed whole genome sequence (WGS) analysis function COPD in multi-ethnic sample 11,497 participants from population- family-based studies, 8499 individuals COPD-enriched studies the NHLBI Trans-Omics for Precision Medicine (TOPMed) Program. identify at genome-wide significance 10 known GWAS loci 22 distinct, previously unreported loci, including two...
The heterogeneity of the whole-exome sequencing (WES) data generation methods present a challenge to joint analysis. Here we bioinformatics strategy for joint-calling 20,504 WES samples collected across nine studies and sequenced using ten capture kits in fourteen centers Alzheimer's Disease Sequencing Project. joint-genotype called variant-called format (VCF) file contains only positions within union kits. VCF was then processed specifically account batch effects arising from use different...
Hydroxyurea has proven efficacy in children and adults with sickle cell anemia (SCA), but considerable inter-individual variability the amount of fetal hemoglobin (HbF) produced. Sibling twin studies indicate that some drug response variation is heritable. To test hypothesis genetic modifiers influence pharmacological induction HbF, we investigated phenotype-genotype associations using whole exome sequencing SCA treated prospectively hydroxyurea to maximum tolerated dose (MTD). We analyzed...
<h3>Objective</h3> To identify genetic variation influencing late-onset Alzheimer disease (LOAD), we used a large data set of non-Hispanic white (NHW) extended families multiply-affected by LOAD performing whole genome sequencing (WGS). <h3>Methods</h3> As part the Disease Sequencing Project, WGS were generated for 197 NHW participants from 42 (affected individuals and unaffected, elderly relatives). A two-pronged approach was taken. First, variants prioritized using heterogeneity logarithm...
Genetic variants affect both Parkinson disease (PD) risk and manifestations. Although genetic information is of potential interest to patients clinicians, testing rarely performed during routine PD clinical care. The goal this study was examine in comprehensive among with document reactions possible findings from genome sequencing 2 academic movement disorder clinics.
Objective To perform whole exome sequencing in 928 Hispanic children and identify variants genes associated with childhood obesity. Methods Single‐nucleotide (SNVs) were identified from Illumina data using integrated read mapping, variant calling, an annotation pipeline (Mercury). Association analyses of 74 obesity‐related traits exonic performed SeqMeta software. Rare autosomal analyzed gene‐based association analyses, common at the SNV level. Results (1) 10 16 SNVs 11 that obesity a cohort...
CFTR F508del (c.1521_1523delCTT, p.Phe508delPhe) is the most common pathogenic allele underlying cystic fibrosis (CF), and its frequency varies in a geographic cline across Europe. We hypothesized that genetic variation associated with this overrepresented large cohort (N > 5,000) of persons CF who underwent whole-genome sequencing pattern could result spurious associations between variants correlated both genotype CF-related outcomes. Using principal-component (PC) analyses, we showed...
Abstract The etiology of biliary atresia (BA) is unknown, but recent studies suggest a role for rare protein‐altering variants (PAVs). Exome sequencing data from the National Birth Defects Prevention Study on 54 child–parent trios, one child–mother duo, and 1513 parents children with other birth defects were analyzed. Most (91%) cases isolated BA. We performed (1) trio‐based analysis to identify de novo , homozygous, compound heterozygous PAVs (2) case–control using sequence kernel‐based...
<title>Abstract</title> Background Whole genome sequence (WGS) data in multi-ancestry samples provide the opportunity to identify low-frequency or population-specific genetic variants associated with chronic obstructive pulmonary disease (COPD) and lung function. Methods We performed single variant, structural gene-based analysis of function (FEV<sub>1</sub>, FVC FEV<sub>1</sub>/FVC) COPD case-control status 44,287 participants from NHLBI Trans-Omics for Precision Medicine (TOPMed) Program....
Genetic studies grounded on monogenic paradigms have accelerated both gene discovery and molecular diagnosis. At the same time, complex genomic rearrangements are also appreciated as potent drivers of disease pathology. Here, we report two male siblings with a dysmorphic face, ambiguous genitalia, intellectual disability, speech delay. Through quad-based whole-exome sequencing concomitant cytogenetic testing, identified copy-number variants (CNVs) in affected individuals likely arising from...
Abstract Background and Objectives Genetic variants impact both Parkinson’s disease (PD) risk manifestations. While genetic information is of potential interest to patients clinicians, testing rarely performed during routine PD clinical care. The goal this study was perform genome sequencing examine patient in comprehensive for 2 academic movement disorder clinics. Methods In 208 subjects with (age=63 years, 67% male), filtered using a custom panel, including 49 genes associated PD,...