The power of genetic diversity in genome-wide association studies of lipids

…, AS Havulinna, Y Veturi, QP Feng, EA Rosenthal… - Nature, 2021 - nature.com
Increased blood lipid levels are heritable risk factors of cardiovascular disease with varied
prevalence worldwide owing to different dietary patterns and medication use 1 . Despite …

[PDF][PDF] Actionable, pathogenic incidental findings in 1,000 participants' exomes

…, MJ Tokita, JT Bennett, JH Kim, EA Rosenthal… - The American Journal of …, 2013 - cell.com
The incorporation of genomics into medicine is stimulating interest on the return of incidental
findings (IFs) from exome and genome sequencing. However, no large-scale study has yet …

Actionable exomic incidental findings in 6503 participants: challenges of variant classification

…, J Ranchalis, KL Jones, EA Rosenthal… - Genome …, 2015 - genome.cshlp.org
Recommendations for laboratories to report incidental findings from genomic tests have
stimulated interest in such results. In order to investigate the criteria and processes for assigning …

[PDF][PDF] Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol

…, TL Assimes, DR Crosslin, EA Rosenthal… - The American Journal of …, 2014 - cell.com
Elevated low-density lipoprotein cholesterol (LDL-C) is a treatable, heritable risk factor for
cardiovascular disease. Genome-wide association studies (GWASs) have identified 157 …

[PDF][PDF] Genome-wide modeling of polygenic risk score in colorectal cancer risk

…, LC Sakoda, M Hoffmeister, EA Rosenthal… - The American journal of …, 2020 - cell.com
Accurate colorectal cancer (CRC) risk prediction models are critical for identifying individuals
at low and high risk of developing CRC, as they can then be offered targeted screening …

[HTML][HTML] Development and validation of a trans-ancestry polygenic risk score for type 2 diabetes in diverse populations

…, E Perez, LJ Rasmussen-Torvik, EA Rosenthal… - Genome medicine, 2022 - Springer
Background Type 2 diabetes (T2D) is a worldwide scourge caused by both genetic and
environmental risk factors that disproportionately afflicts communities of color. Leveraging …

[HTML][HTML] Returning integrated genomic risk and clinical recommendations: The eMERGE study

…, T Rakhra-Burris, DM Roden, EA Rosenthal… - Genetics in …, 2023 - Elsevier
Purpose Assessing the risk of common, complex diseases requires consideration of clinical
risk factors as well as monogenic and polygenic risks, which in turn may be reflected in …

[HTML][HTML] Frequency of genomic secondary findings among 21,915 eMERGE network participants

…, HM Rasouly, DM Roden, EA Rosenthal… - Genetics in …, 2020 - Elsevier
Purpose Discovering an incidental finding (IF) or secondary finding (SF) is a potential result
of genomic testing, but few data exist describing types and frequencies of SFs likely to …

The eMERGE genotype set of 83,717 subjects imputed to~ 40 million variants genome wide and association with the herpes zoster medical record phenotype

IB Stanaway, TO Hall, EA Rosenthal… - Genetic …, 2019 - Wiley Online Library
The Electronic Medical Records and Genomics (eMERGE) network is a network of medical
centers with electronic medical records linked to existing biorepository samples for genomic …

[HTML][HTML] Selection, optimization and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse US populations

…, HL Rehm, DM Roden, EA Rosenthal… - Nature Medicine, 2024 - nature.com
Polygenic risk scores (PRSs) have improved in predictive performance, but several challenges
remain to be addressed before PRSs can be implemented in the clinic, including reduced …