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 …
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
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 …
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 …
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
Candidate gene and genome-wide association studies (GWAS) have identified genetic
variants that modulate risk for human disease; many of these associations require further …
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 …
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
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 …
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 …
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 …
of genetic and genomic research. Unresolved, however, is what responsibilities biobanks …
[HTML][HTML] Secondary use of clinical data: the Vanderbilt approach
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 …
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 …
heart disease with 2 subtypes: isolated post-capillary pulmonary hypertension (Ipc-PH) and …