Genetic architecture: the shape of the genetic contribution to human traits and disease

NJ Timpson, CMT Greenwood, N Soranzo… - Nature Reviews …, 2018 - nature.com
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 …

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 …

[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 …

[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 …

Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease

S Romeo, J Kozlitina, C Xing, A Pertsemlidis, D Cox… - Nature …, 2008 - nature.com
Nonalcoholic fatty liver disease (NAFLD) is a burgeoning health problem of unknown
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 …

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 …

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 …

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 …

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 …