Letter | Published: 19 June 2019 Genetic analyses of diverse populations improves discovery for complex traits
| Post date: 2019/06/21 |
Genome-wide association studies (GWAS) have laid the foundation for investigations into the biology of complex traits, drug development and clinical guidelines. However, the majority of discovery efforts are based on data from populations of European ancestry1,2,3. In light of the differential genetic architecture that is known to exist between populations, bias in representation can exacerbate existing disease and healthcare disparities. Critical variants may be missed if they have a low frequency or are completely absent in European populations, especially as the field shifts its attention towards rare variants, which are more likely to be population-specific4,5,6,7,8,9,10. Additionally, effect sizes and their derived risk prediction scores derived in one population may not accurately extrapolate to other populations11,12. Here we demonstrate the value of diverse, multi-ethnic participants in large-scale genomic studies. The Population Architecture using Genomics and Epidemiology (PAGE) study conducted a GWAS of 26 clinical and behavioural phenotypes in 49,839 non-European individuals. Using strategies tailored for analysis of multi-ethnic and admixed populations, we describe a framework for analysing diverse populations, identify 27 novel loci and 38 secondary signals at known loci, as well as replicate 1,444 GWAS catalogue associations across these traits. Our data show evidence of effect-size heterogeneity across ancestries for published GWAS associations, substantial benefits for fine-mapping using diverse cohorts and insights into clinical implications. In the United States—where minority populations have a disproportionately higher burden of chronic conditions13—the lack of representation of diverse populations in genetic research will result in inequitable access to precision medicine for those with the highest burden of disease. We strongly advocate for continued, large genome-wide efforts in diverse populations to maximize genetic discovery and reduce health disparities.
View: 452 Time(s) | Print: 67 Time(s) | Email: 0 Time(s) |
0 Comment(s)
the hyperprolific authors
Thousands of scientists publish a paper every five days
| Post date: 2019/05/18 |
Authorship is the coin of scholarship — and some researchers are minting a lot.
View: 1099 Time(s) | Print: 137 Time(s) | Email: 0 Time(s) |
0 Comment(s)
Authorship
Defining the Role of Authors and Contributors
| Post date: 2019/05/18 |
Who is the author??? The ICMJE recommends that authorship be based on the following 4 criteria: 1. Substantial contributions to the conception or design of the work; or the acquisition, analysis, or interpretation of data for the work 2. Drafting the work or revising it critically for important intellectual content 3. Final approval of the version to be published 4. Agreement to be accountable for all aspects of the work.
View: 1258 Time(s) | Print: 138 Time(s) | Email: 0 Time(s) |
0 Comment(s)
Statistical significance
Scientists rise up against statistical significance
| Post date: 2019/05/18 |
When was the last time you heard a seminar speaker claim there was ‘no difference’ between two groups because the difference was ‘statistically non-significant’?
View: 662 Time(s) | Print: 133 Time(s) | Email: 0 Time(s) |
0 Comment(s)
Call for Paper
Modern Medical Laboratory Journal is a peer-reviewed journal published by Farname Inc (Canadian Publisher). The journal publishes research papers covering the subject areas of Stem Cell and Regenerative Medicine, Medical Biology, Anatomical Pathology, Clinical Microbiology, Hematology, Structural Biology, Molecular Biology and Medical Genetics, Medical Biochemistry, Medical Biotechnology. You are free to submit well-written, unpublished scholarly papers or manuscripts for which you hold copyright in the above subject areas.
View: 5155 Time(s) | Print: 919 Time(s) | Email: 0 Time(s) |
0 Comment(s)
