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 …

Going global by adapting local: A review of recent human adaptation

S Fan, MEB Hansen, Y Lo, SA Tishkoff - Science, 2016 - science.org
The spread of modern humans across the globe has led to genetic adaptations to diverse
local environments. Recent developments in genomic technologies, statistical analyses, and …

Ancestry-inclusive dog genomics challenges popular breed stereotypes

K Morrill, J Hekman, X Li, J McClure, B Logan… - Science, 2022 - science.org
Behavioral genetics in dogs has focused on modern breeds, which are isolated subgroups
with distinctive physical and, purportedly, behavioral characteristics. We interrogated breed …

Dairying, diseases and the evolution of lactase persistence in Europe

RP Evershed, G Davey Smith, M Roffet-Salque… - Nature, 2022 - nature.com
Abstract In European and many African, Middle Eastern and southern Asian populations,
lactase persistence (LP) is the most strongly selected monogenic trait to have evolved over …

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection

AF Pardiñas, P Holmans, AJ Pocklington… - Nature …, 2018 - nature.com
Schizophrenia is a debilitating psychiatric condition often associated with poor quality of life
and decreased life expectancy. Lack of progress in improving treatment outcomes has been …

[图书][B] Darwin's unfinished symphony: How culture made the human mind

KN Laland - 2017 - degruyter.com
Humans possess an extraordinary capacity for cultural production, from the arts and
language to science and technology. How did the human mind—and the uniquely human …

Adaptive sequence divergence forged new neurodevelopmental enhancers in humans

RJ Mangan, FC Alsina, F Mosti, JE Sotelo-Fonseca… - Cell, 2022 - cell.com
Searches for the genetic underpinnings of uniquely human traits have focused on human-
specific divergence in conserved genomic regions, which reflects adaptive modifications of …

Detecting natural selection in genomic data

JJ Vitti, SR Grossman, PC Sabeti - Annual review of genetics, 2013 - annualreviews.org
The past fifty years have seen the development and application of numerous statistical
methods to identify genomic regions that appear to be shaped by natural selection. These …

Association of trypanolytic ApoL1 variants with kidney disease in African Americans

G Genovese, DJ Friedman, MD Ross, L Lecordier… - Science, 2010 - science.org
African Americans have higher rates of kidney disease than European Americans. Here, we
show that, in African Americans, focal segmental glomerulosclerosis (FSGS) and …

[HTML][HTML] Integrating common and rare genetic variation in diverse human populations

International HapMap 3 Consortium - Nature, 2010 - ncbi.nlm.nih.gov
Despite great progress in identifying genetic variants that influence human disease, most
inherited risk remains unexplained. A more complete understanding requires genome-wide …