Genetic architecture: the shape of the genetic contribution to human traits and disease
Genetic architecture describes the characteristics of genetic variation that are responsible for
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
heritable phenotypic variability. It depends on the number of genetic variants affecting a trait …
Genome-wide association studies in diverse populations
NA Rosenberg, L Huang, EM Jewett… - Nature Reviews …, 2010 - nature.com
Genome-wide association (GWA) studies have identified a large number of SNPs
associated with disease phenotypes. As most GWA studies have been performed in …
associated with disease phenotypes. As most GWA studies have been performed in …
[图书][B] Who we are and how we got here: Ancient DNA and the new science of the human past
D Reich - 2018 - books.google.com
The past few years have witnessed a revolution in our ability to obtain DNA from ancient
humans. This important new data has added to our knowledge from archaeology and …
humans. This important new data has added to our knowledge from archaeology and …
[PDF][PDF] The genetic ancestry of african americans, latinos, and european Americans across the United States
K Bryc, EY Durand, JM Macpherson, D Reich… - The American Journal of …, 2015 - cell.com
Over the past 500 years, North America has been the site of ongoing mixing of Native
Americans, European settlers, and Africans (brought largely by the trans-Atlantic slave …
Americans, European settlers, and Africans (brought largely by the trans-Atlantic slave …
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease
Nonalcoholic fatty liver disease (NAFLD) is a burgeoning health problem of unknown
etiology that varies in prevalence among ancestry groups. To identify genetic variants …
etiology that varies in prevalence among ancestry groups. To identify genetic variants …
The genetic structure and history of Africans and African Americans
SA Tishkoff, FA Reed, FR Friedlaender, C Ehret… - science, 2009 - science.org
Africa is the source of all modern humans, but characterization of genetic variation and of
relationships among populations across the continent has been enigmatic. We studied 121 …
relationships among populations across the continent has been enigmatic. We studied 121 …
Population structure and eigenanalysis
N Patterson, AL Price, D Reich - PLoS genetics, 2006 - journals.plos.org
Current methods for inferring population structure from genetic data do not provide formal
significance tests for population differentiation. We discuss an approach to studying …
significance tests for population differentiation. We discuss an approach to studying …
Mendelian randomization: using genes as instruments for making causal inferences in epidemiology
DA Lawlor, RM Harbord, JAC Sterne… - Statistics in …, 2008 - Wiley Online Library
Observational epidemiological studies suffer from many potential biases, from confounding
and from reverse causation, and this limits their ability to robustly identify causal …
and from reverse causation, and this limits their ability to robustly identify causal …
A haplotype map of the human genome
… Consortium Altshuler David altshuler@ molbio. mgh … - Nature, 2005 - nature.com
Inherited genetic variation has a critical but as yet largely uncharacterized role in human
disease. Here we report a public database of common variation in the human genome: more …
disease. Here we report a public database of common variation in the human genome: more …
SLC24A5, a putative cation exchanger, affects pigmentation in zebrafish and humans
RL Lamason, MAPK Mohideen, JR Mest, AC Wong… - Science, 2005 - science.org
Lighter variations of pigmentation in humans are associated with diminished number, size,
and density of melanosomes, the pigmented organelles of melanocytes. Here we show that …
and density of melanosomes, the pigmented organelles of melanocytes. Here we show that …