The ARIC (Atherosclerosis Risk In Communities) Study: JACC Focus Seminar 3/8
JD Wright, AR Folsom, J Coresh, AR Sharrett… - Journal of the American …, 2021 - jacc.org
Abstract ARIC (Atherosclerosis Risk In Communities) initiated community-based
surveillance in 1987 for myocardial infarction and coronary heart disease (CHD) incidence …
surveillance in 1987 for myocardial infarction and coronary heart disease (CHD) incidence …
[HTML][HTML] The next-generation sequencing revolution and its impact on genomics
Genomics is a relatively new scientific discipline, having DNA sequencing as its core
technology. As technology has improved the cost and scale of genome characterization over …
technology. As technology has improved the cost and scale of genome characterization over …
Evolution and functional impact of rare coding variation from deep sequencing of human exomes
As a first step toward understanding how rare variants contribute to risk for complex
diseases, we sequenced 15,585 human protein-coding genes to an average median depth …
diseases, we sequenced 15,585 human protein-coding genes to an average median depth …
[HTML][HTML] Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Establishing the age of each mutation segregating in contemporary human populations is
important to fully understand our evolutionary history, and will help to facilitate the …
important to fully understand our evolutionary history, and will help to facilitate the …
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease
DN Cooper, M Krawczak, C Polychronakos… - Human genetics, 2013 - Springer
Some individuals with a particular disease-causing mutation or genotype fail to express
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
most if not all features of the disease in question, a phenomenon that is known as 'reduced …
Improving the accuracy and efficiency of identity-by-descent detection in population data
BL Browning, SR Browning - Genetics, 2013 - academic.oup.com
Segments of indentity-by-descent (IBD) detected from high-density genetic data are useful
for many applications, including long-range phase determination, phasing family data …
for many applications, including long-range phase determination, phasing family data …
An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people
Rare genetic variants contribute to complex disease risk; however, the abundance of rare
variants in human populations remains unknown. We explored this spectrum of variation by …
variants in human populations remains unknown. We explored this spectrum of variation by …
Accurate non-parametric estimation of recent effective population size from segments of identity by descent
SR Browning, BL Browning - The American Journal of Human Genetics, 2015 - cell.com
Existing methods for estimating historical effective population size from genetic data have
been unable to accurately estimate effective population size during the most recent past. We …
been unable to accurately estimate effective population size during the most recent past. We …
Demographic history and rare allele sharing among human populations
High-throughput sequencing technology enables population-level surveys of human
genomic variation. Here, we examine the joint allele frequency distributions across …
genomic variation. Here, we examine the joint allele frequency distributions across …
Recent explosive human population growth has resulted in an excess of rare genetic variants
Human populations have experienced recent explosive growth, expanding by at least three
orders of magnitude over the past 400 generations. This departure from equilibrium skews …
orders of magnitude over the past 400 generations. This departure from equilibrium skews …