John J. Connolly
A5064040046- Genomics and Rare Diseases
- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Genomic variations and chromosomal abnormalities
- Cancer Genomics and Diagnostics
- Liver Disease Diagnosis and Treatment
- Health Systems, Economic Evaluations, Quality of Life
- Genetics and Neurodevelopmental Disorders
- Autism Spectrum Disorder Research
- Biomedical Text Mining and Ontologies
- Hidradenitis Suppurativa and Treatments
- Diabetes and associated disorders
- Pharmacogenetics and Drug Metabolism
- Pancreatic function and diabetes
- Colorectal and Anal Carcinomas
- Epigenetics and DNA Methylation
- Systemic Lupus Erythematosus Research
- Asthma and respiratory diseases
- Bioinformatics and Genomic Networks
- Education Systems and Policy
- Immune Cell Function and Interaction
- Congenital heart defects research
- Biomedical Ethics and Regulation
- Cognitive Abilities and Testing
Children's Hospital of Philadelphia
2016-2025
University of Pennsylvania
2012-2022
Purdue University West Lafayette
2022
Medical University of South Carolina
2021
Philadelphia Department of Public Health
2021
Genomics (United Kingdom)
2020
Philadelphia University
2012
Nebraska Medical Center
1989
University of Nebraska Medical Center
1989
Twin Cities Orthopedics
1989
Examine age group effects and sex differences by applying a comprehensive computerized battery of identical behavioral measures linked to brain systems in youths that were already genotyped. Such information is needed incorporate data as neuropsychological "biomarkers" large-scale genomic studies.
Background An integrative multidisciplinary approach is required to elucidate the multiple factors that shape neurodevelopmental trajectories of mental disorders. The Philadelphia Neurodevelopmental Cohort ( PNC ), funded by National Institute Mental Health Grand Opportunity GO ) mechanism American Recovery and Reinvestment Act, was designed characterize clinical neurobehavioral phenotypes genotyped youths. Data generated, which are recently available through NIMH Database Genotypes...
We describe here the design and initial implementation of eMERGE-PGx project. eMERGE-PGx, a partnership Electronic Medical Records Genomics Network Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, nearly 9,000 patients likely be prescribed drugs interest 1- 3-year time frame across several clinical sites; (ii) integrate well-established clinically validated...
Little is known about the occurrence and predictors of psychosis spectrum in large non-clinical community samples U.S. youths. We aimed to bridge this gap through assessment symptoms Philadelphia Neurodevelopmental Cohort, a collaborative investigation clinical neurobehavioral phenotypes prospectively accrued cohort youths, funded by National Institute Mental Health. Youths (age 11-21; N=7,054) collateral informants (caregiver/legal guardian) were recruited Children's Hospital administered...
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research began eMERGE‐PGx, a targeted sequencing study to assess 82 pharmacogenes critical for implementation of “precision medicine.” February 2015 eMERGE‐PGx data release includes sequence‐derived from ∼5,000 clinical subjects. We present variant frequency spectrum...
Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges remain to be addressed before PRSs can implemented the clinic, including reduced performance of diverse populations, and interpretation communication genetic results both providers patients. To address these challenges, National Human Genome Research Institute-funded Electronic Medical Records Genomics (eMERGE) Network has developed a framework pipeline for return PRS-based genome-informed assessment...
Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci. Ancestry-specific analysis indicated an attenuation newly signals on common variants European ancestry populations the power population diversity for further discoveries. We defined genotype effects allele-specific gene expression...
<h3>Importance</h3> Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess relevance variants. <h3>Objective</h3> To determine EMRs for individuals with designated as pathogenic by expert review arrhythmia susceptibility genes. <h3>Design, Setting, and...
Non-alcoholic fatty liver disease (NAFLD) is a common chronic illness with genetically heterogeneous background that can be accompanied by considerable morbidity and attendant health care costs. The pathogenesis progression of NAFLD complex many unanswered questions. We conducted genome-wide association studies (GWASs) using both adult pediatric participants from the Electronic Medical Records Genomics (eMERGE) Network to identify novel genetic contributors this condition.First, natural...
Despite significant advances in knowledge of the genetic architecture asthma, specific contributors to variability burden between populations remain uncovered.To identify additional susceptibility factors asthma European American and African populations.A phenotyping algorithm mining electronic medical records was developed validated recruit cases with control subjects from Electronic Medical Records Genomics network. Genome-wide association analyses were performed pediatric adult ancestry...
Abstract Autoimmune diseases (AIDs) are polygenic affecting 7–10% of the population in Western Hemisphere with few effective therapies. Here, we quantify heritability paediatric AIDs (pAIDs), including JIA, SLE, CEL, T1D, UC, CD, PS, SPA and CVID, attributable to common genomic variations (SNP -h 2 ). SNP- h estimates most significant for T1D (0.863±s.e. 0.07) JIA (0.727±s.e. 0.037), more modest UC (0.386±s.e. 0.04) CD (0.454±0.025), largely consistent generally greater than that previously...
function actually paralleled clinical disability in parkinsonism. If so, a comparison with poliomyelitis might then reveal whether any common factors resulted simply from limita tion of motion. In addition, the pathogenesis respiratory disorder parkinsonism could be investigated by noting characteristic pattern dysfunc existed, or correlated development problems dis =
Objective Cohort selection is challenging for large-scale electronic health record (EHR) analyses, as International Classification of Diseases 9th edition (ICD-9) diagnostic codes are notoriously unreliable disease predictors. Our objective was to develop, evaluate, and validate an automated algorithm determining Autism Spectrum Disorder (ASD) patient cohort from EHR. We demonstrate its utility via the largest investigation date co-occurrence patterns medical comorbidities in ASD. Methods...
Abstract Copy number variants (CNVs) are suggested to have a widespread impact on the human genome and phenotypes. To understand role of CNVs across diseases, we examine CNV genomic landscape 100,028 unrelated individuals European ancestry, using SNP CGH array datasets. We observe an average burden ~650 kb, identifying total 11,314 deletion, 5625 duplication, 2746 homozygous deletion regions (CNVRs). In all, 13.7% unreported, 58.6% overlap with at least one gene, 32.8% interrupt coding...