Colleen M. Kripke's research while affiliated with University of Pennsylvania and other places
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Publications (7)
Background
Glaucoma is a leading cause of worldwide irreversible blindness. Considerable uncertainty remains regarding the association between a variety of phenotypes and the genetic risk of glaucoma, as well as the impact they exert on the glaucoma development.
Methods
We investigated the associations of genetic liability for primary open angle g...
Numerous studies have underscored the diagnostic and therapeutic potential of exome or genome sequencing in critically ill pediatric populations. However, an equivalent investigation in critically ill adults remains conspicuously absent. We retrospectively analyzed whole exome sequencing (WES) data available through the PennMedicine Biobank (PMBB)...
The objective of this study is to define CT imaging derived phenotypes for patients with hepatic steatosis, a common metabolic liver condition, and determine its association with patient data from a medical biobank. There is a need to further characterize hepatic steatosis in lean patients, as its epidemiology may differ from that in overweight pat...
Polygenic risk scores (PRS) have predominantly been derived from genome-wide association studies (GWAS) conducted in European ancestry (EUR) individuals. In this study, we present an in-depth evaluation of PRS based on multi-ancestry GWAS for five cardiometabolic phenotypes in the Penn Medicine BioBank (PMBB) followed by a phenome-wide association...
The Penn Medicine BioBank (PMBB) is an electronic health record (EHR)-linked biobank at the University of Pennsylvania (Penn Medicine). A large variety of health-related information, ranging from diagnosis codes to laboratory measurements, imaging data and lifestyle information, is integrated with genomic and biomarker data in the PMBB to facilitat...
Citations
... Previous studies have shown that PGS are a useful indicator of conditions such as cardiovascular disease [18], kidney disease [19], opioid use disorder [20], depression [21], and pain [22], among many others. PGS may also be used in phenome-wide association studies (PheWAS) [23] to provide insight into the pleiotropic nature of genetic liability for disorders [24,25]. PheWAS, which have been commonly implemented using electronic health record (EHR) databases, measure the association between a PGS for a disorder by testing it against multiple phenotypes in a hypothesis-free paradigm. ...
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... The UKB is composed of >500,000 participating individuals aged 37-73 years at the time of recruitment, who underwent various questionnaires, physical measurements, biological sampling (blood and urine), and genome sequencing across 22 assessment centers in the UK 30 . A subset of participants were invited to complete an additional examination that included magnetic resonance imaging of the heart 10 .The PMBB is composed of 174,712 consenting patients of the Penn Medicine health network, with a subset of 44,000 participants with available genotyping data 11 . Additionally, all participants medical records including imaging results are de-identified and linked to their identifier. ...
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