PT  - JOURNAL ARTICLE
AU  - Benjamin Marco Peter
AU  - Desislava Petkova
AU  - John Novembre
TI  - Genetic landscapes reveal how human genetic diversity aligns with geography
AID  - 10.1101/233486
DP  - 2017 Jan 01
TA  - bioRxiv
PG  - 233486
4099  - http://biorxiv.org/content/early/2017/12/13/233486.short
4100  - http://biorxiv.org/content/early/2017/12/13/233486.full
AB  - Geographic patterns in human genetic diversity carry footprints of population history1,2 land need to be understood to carry out global biomedicine3,4. Summarizing and visually Representing these patterns of diversity has been a persistent goal for human geneticists5-9. However, most analytical methods to represent population structure10-14 do not incorporate geography directly, and it must be considered post hoc alongside a ovisual summary. Here, we use a recently developed spatially explicit method to estimate “effective migration” surfaces to visualize how human genetic diversity is geographically »structured (the EEMS method15). The resulting surfaces are “rugged”, which indicates ithe relationship between genetic and geographic distance is heterogenous and distorted as a rule. Most prominently, topographic and marine features regularly align with oincreased genetic differentiation (e.g. the Sahara Desert, Mediterranean Sea or Himalaya at large scales; the Adriatic, inter-island straits in near Oceania at smaller scales). We lalso see traces of historical migrations and boundaries of language families. These results provide visualizations of human genetic diversity that reveal local patterns of differentiation in detail and emphasize that while genetic similarity generally decays with ogeographic distance, there have regularly been factors that subtly distort the underlying Relationship across space observed today. The fine-scale population structure depicted ohere is relevant to understanding complex processes of human population history and may provide insights for geographic patterning in rare variants and heritable disease risk.