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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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 …
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
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 …
remain to be addressed before PRSs can be implemented in the clinic, including reduced …