Using electronic health records to drive discovery in disease genomics

IS Kohane - Nature Reviews Genetics, 2011 - nature.com
If genomic studies are to be a clinically relevant and timely reflection of the relationship
between genetics and health status—whether for common or rare variants—cost-effective …

[HTML][HTML] Advances and applications of polygenic scores for coronary artery disease

AP Patel, AV Khera - Annual Review of Medicine, 2023 - annualreviews.org
Polygenic scores quantify inherited risk by integrating information from many common sites
of DNA variation into a single number. Rapid increases in the scale of genetic association …

Multi-ethnic genome-wide association study for atrial fibrillation

C Roselli, MD Chaffin, LC Weng, S Aeschbacher… - Nature …, 2018 - nature.com
Atrial fibrillation (AF) affects more than 33 million individuals worldwide and has a complex
heritability. We conducted the largest meta-analysis of genome-wide association studies …

Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data

JC Denny, L Bastarache, MD Ritchie, RJ Carroll… - Nature …, 2013 - nature.com
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …

[引用][C] Toward Precision Medicine: Building a Knowledge Network for Biomedical Research and a New Taxonomy of Disease

National Research Council - 2011 - books.google.com
Motivated by the explosion of molecular data on humans-particularly data associated with
individual patients-and the sense that there are large, as-yet-untapped opportunities to use …

Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program

A Verma, JE Huffman, A Rodriguez, M Conery, M Liu… - Science, 2024 - science.org
One of the justifiable criticisms of human genetic studies is the underrepresentation of
participants from diverse populations. Lack of inclusion must be addressed at-scale to …

Broad consent for research with biological samples: workshop conclusions

C Grady, L Eckstein, B Berkman, D Brock… - The American Journal …, 2015 - Taylor & Francis
Different types of consent are used to obtain human biospecimens for future research. This
variation has resulted in confusion regarding what research is permitted, inadvertent …

[HTML][HTML] Managing incidental findings and research results in genomic research involving biobanks and archived data sets

SM Wolf, BN Crock, B Van Ness, F Lawrenz… - Genetics in …, 2012 - nature.com
Biobanks and archived data sets collecting samples and data have become crucial engines
of genetic and genomic research. Unresolved, however, is what responsibilities biobanks …

[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach

I Danciu, JD Cowan, M Basford, X Wang, A Saip… - Journal of biomedical …, 2014 - Elsevier
The last decade has seen an exponential growth in the quantity of clinical data collected
nationwide, triggering an increase in opportunities to reuse the data for biomedical research …

Clinical and biological insights into combined post-and pre-capillary pulmonary hypertension

TR Assad, AR Hemnes, EK Larkin, AM Glazer… - Journal of the American …, 2016 - jacc.org
Background: Pulmonary hypertension (PH) is a common and morbid complication of left
heart disease with 2 subtypes: isolated post-capillary pulmonary hypertension (Ipc-PH) and …