Kristy Crooks
A5085854141- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- SARS-CoV-2 and COVID-19 Research
- Genetic Associations and Epidemiology
- Glaucoma and retinal disorders
- Pharmacogenetics and Drug Metabolism
- Thyroid Cancer Diagnosis and Treatment
- Retinal Diseases and Treatments
- Ethics in Clinical Research
- Epigenetics and DNA Methylation
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Prenatal Screening and Diagnostics
- Renal and related cancers
- Ophthalmology and Eye Disorders
- Race, Genetics, and Society
- interferon and immune responses
- Metabolism and Genetic Disorders
- Immune responses and vaccinations
- COVID-19 Clinical Research Studies
- Proteoglycans and glycosaminoglycans research
- Bioinformatics and Genomic Networks
- Health Systems, Economic Evaluations, Quality of Life
University of Colorado Anschutz Medical Campus
2016-2025
Hunter New England Local Health District
2025
University of Colorado Denver
2017-2024
Duke University
2010-2018
University of North Carolina at Chapel Hill
2014-2018
Renaissance Computing Institute
2018
The Ohio State University Wexner Medical Center
2018
Oregon Health & Science University
2018
Duke University Hospital
2009-2014
Duke Medical Center
2009-2014
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
Polygenic risk scores (PRSs) have been widely explored in precision medicine. However, few studies thoroughly investigated their best practices global populations across different diseases. We here utilized data from Global Biobank Meta-analysis Initiative (GBMI) to explore methodological considerations and PRS performance 9 biobanks for 14 disease endpoints. Specifically, we constructed PRSs using pruning thresholding (P + T) PRS-continuous shrinkage (CS). For both methods, a European-based...
Precision medicine initiatives across the globe have led to a revolution of repositories linking large-scale genomic data with electronic health records, enabling analyses entire phenome. Many these focus solely on research insights, leading limited direct benefit patients. We describe biobank at Colorado Center for Personalized Medicine (CCPM Biobank) that was jointly developed by University Anschutz Medical Campus and UCHealth serve as unique, dual-purpose clinical resource accelerating...
The Clinical Genome Resource (ClinGen) Ancestry and Diversity Working Group highlights the need to develop guidance on race, ethnicity, ancestry (REA) data collection use in clinical genomics. We present quantitative qualitative evidence characterize: (1) acquisition of REA via laboratory requisition forms, (2) information disparity across populations Aggregation Database (gnomAD) at clinically relevant sites ascertained from annotations ClinVar. Our form analysis showed substantial...
Genetics researchers and clinical professionals rely on diversity measures such as race, ethnicity, ancestry (REA) to stratify study participants patients for a variety of applications in research precision medicine. However, there are no comprehensive, widely accepted standards or guidelines collecting using data genetics practice. Two NIH-funded consortia, the Clinical Genome Resource (ClinGen) Sequencing Evidence-generating Research (CSER), have partnered address this issue report how REA...
Since the onset of SARS-CoV-2 pandemic, most clinical testing has focused on RT-PCR1. Host epigenome manipulation post coronavirus infection2-4 suggests that DNA methylation signatures may differentiate patients with infection from uninfected individuals, and help predict COVID-19 disease severity, even at initial presentation.We customized Illumina's Infinium MethylationEPIC array to enhance immune response detection profiled peripheral blood samples 164 longitudinal measurements severity...
During limbic epileptogenesis in vivo the dentate granule cells (DGCs) exhibit increased expression of brain-derived neurotrophic factor (BDNF), followed by striking morphologic plasticities, namely formation basal dendrites and sprouting mossy fibers. We hypothesized that BDNF intrinsic to DGCs is sufficient induce these plasticities. To test this hypothesis, we transfected rat hippocampal slice cultures with or nerve growth (NGF) via particle-mediated gene transfer, visualized neuronal...
As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there debate about how they should handled. The actionability such varies, necessitating standardized frameworks for priori decision making their analysis.We established semiquantitative metric to assess five elements actionability: severity likelihood the disease outcome, efficacy burden intervention, knowledge base, with...
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend diagnostic utility this previously underutilized by providing clinically important such as unsuspected deletions or duplications. We evaluated ExomeDepth, free R package, addition an aneuploidy prediction method, detect CNVs data. First, blinded pilot study, five out...
Summary Biobanks are being established across the world to understand genetic, environmental, and epidemiological basis of human diseases with goal better prevention treatments. Genome-wide association studies (GWAS) have been very successful at mapping genomic loci for a wide range traits, but in general, lack appropriate representation diverse ancestries - most biobanks preceding GWAS composed individuals European ancestries. Here, we introduce Global Biobank Meta-analysis Initiative...
Abstract Purpose To describe our experiences implementing and iterating CYP2C19 genotype–guided clopidogrel pharmacogenetic clinical decision support (CDS) tools over time in the setting of a large health system–wide, preemptive pharmacogenomics program. Summary Clopidogrel-treated patients who are genetically predicted cytochrome P450 isozyme 2C19 (CYP2C19) intermediate or poor metabolizers have an increased risk atherothrombotic events, some which can be life-threatening. The Clinical...
To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).We performed exome 93 undiagnosed various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted broad gene lists were identified. Prior tests extracted from patient's medical record to use context their prior workup.The overall our cohort 12.9%, one or more pathogenic likely variants identified causative associated disorder. Targeted had...
Drug-induced QT prolongation (diLQTS), and subsequent risk of torsade de pointes, is a major concern with use many medications, including for non-cardiac conditions. The possibility that genetic risk, in the form polygenic scores (PGS), could be integrated into prediction diLQTS has great potential, although it unknown how related to clinical factors as might applied decision-making. In this study, we examined PGS interval 2500 subjects exposed known QT-prolonging drug on over 500ms ECG...
Little is known about how many insured patients receive pharmacogenetic testing. We describe trends of single-gene testing in a US managed care population, and demographic clinical characteristics who received test.We leveraged random sample nearly 11 million from data set paid medical pharmacy claims to identify with at least one claim indicating receipt these tests: CYP2C19, CYP2D6, CYP2C9, VKORC1, UGT1A1, HLA class 1 typing.From January 2013 30 September 2017, 5712 test (55% female; mean...
Abstract Context Thyroid nodule ultrasound-based risk stratification schemas rely on the presence of high-risk sonographic features. However, some malignant thyroid nodules have benign appearance ultrasound. New methods for assessment are needed. Objective We investigated polygenic score (PRS) accounting inherited cancer combined with analysis improved assessment. Methods The convolutional neural network classifier was trained ultrasound still images and cine clips from 621 nodules....
This study explored Aboriginal and Torres Strait Islander peoples’ experiences receiving cultural support from a public health unit in Hunter New England Local Health District South Wales. Using an Indigenist research approach, online survey was conducted as well yarning with people who had received while isolation during the COVID-19 pandemic. Non-Aboriginal parents carers of children were also eligible. Of 3,819 eligible individuals, 70 surveys 55 valid responses after excluding 15....
Thyroid diseases are common and highly heritable. Under the Global Biobank Meta-analysis Initiative, we performed a meta-analysis of genome-wide association studies from 19 biobanks for five thyroid diseases: cancer, benign nodular goiter, Graves' disease, lymphocytic thyroiditis, primary hypothyroidism. We analyzed genetic data ~2.9 million genomes identified 235 known 501 novel independent variants significantly linked to diseases. discovered correlations between autoimmune (r2=0.21-0.97)....