Literature DB >> 19218534

Global distribution of genomic diversity underscores rich complex history of continental human populations.

Adam Auton1, Katarzyna Bryc, Adam R Boyko, Kirk E Lohmueller, John Novembre, Andy Reynolds, Amit Indap, Mark H Wright, Jeremiah D Degenhardt, Ryan N Gutenkunst, Karen S King, Matthew R Nelson, Carlos D Bustamante.   

Abstract

Characterizing patterns of genetic variation within and among human populations is important for understanding human evolutionary history and for careful design of medical genetic studies. Here, we analyze patterns of variation across 443,434 single nucleotide polymorphisms (SNPs) genotyped in 3845 individuals from four continental regions. This unique resource allows us to illuminate patterns of diversity in previously under-studied populations at the genome-wide scale including Latin America, South Asia, and Southern Europe. Key insights afforded by our analysis include quantifying the degree of admixture in a large collection of individuals from Guadalajara, Mexico; identifying language and geography as key determinants of population structure within India; and elucidating a north-south gradient in haplotype diversity within Europe. We also present a novel method for identifying long-range tracts of homozygosity indicative of recent common ancestry. Application of our approach suggests great variation within and among populations in the extent of homozygosity, suggesting both demographic history (such as population bottlenecks) and recent ancestry events (such as consanguinity) play an important role in patterning variation in large modern human populations.

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Year:  2009        PMID: 19218534      PMCID: PMC2675968          DOI: 10.1101/gr.088898.108

Source DB:  PubMed          Journal:  Genome Res        ISSN: 1088-9051            Impact factor:   9.043


  40 in total

1.  Genetic structure of north-west Africa revealed by STR analysis.

Authors:  E Bosch; F Calafell; A Pérez-Lezaun; J Clarimón; D Comas; E Mateu; R Martínez-Arias; B Morera; Z Brakez; O Akhayat; A Sefiani; G Hariti; A Cambon-Thomsen; J Bertranpetit
Journal:  Eur J Hum Genet       Date:  2000-05       Impact factor: 4.246

2.  Inference of population structure using multilocus genotype data.

Authors:  J K Pritchard; M Stephens; P Donnelly
Journal:  Genetics       Date:  2000-06       Impact factor: 4.562

3.  Geographic patterns of mtDNA diversity in Europe.

Authors:  L Simoni; F Calafell; D Pettener; J Bertranpetit; G Barbujani
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

4.  Y genetic data support the Neolithic demic diffusion model.

Authors:  Lounes Chikhi; Richard A Nichols; Guido Barbujani; Mark A Beaumont
Journal:  Proc Natl Acad Sci U S A       Date:  2002-08-07       Impact factor: 11.205

5.  A high-resolution recombination map of the human genome.

Authors:  Augustine Kong; Daniel F Gudbjartsson; Jesus Sainz; Gudrun M Jonsdottir; Sigurjon A Gudjonsson; Bjorgvin Richardsson; Sigrun Sigurdardottir; John Barnard; Bjorn Hallbeck; Gisli Masson; Adam Shlien; Stefan T Palsson; Michael L Frigge; Thorgeir E Thorgeirsson; Jeffrey R Gulcher; Kari Stefansson
Journal:  Nat Genet       Date:  2002-06-10       Impact factor: 38.330

6.  A genomewide admixture map for Latino populations.

Authors:  Alkes L Price; Nick Patterson; Fuli Yu; David R Cox; Alicja Waliszewska; Gavin J McDonald; Arti Tandon; Christine Schirmer; Julie Neubauer; Gabriel Bedoya; Constanza Duque; Alberto Villegas; Maria Catira Bortolini; Francisco M Salzano; Carla Gallo; Guido Mazzotti; Marcela Tello-Ruiz; Laura Riba; Carlos A Aguilar-Salinas; Samuel Canizales-Quinteros; Marta Menjivar; William Klitz; Brian Henderson; Christopher A Haiman; Cheryl Winkler; Teresa Tusie-Luna; Andres Ruiz-Linares; David Reich
Journal:  Am J Hum Genet       Date:  2007-04-13       Impact factor: 11.025

7.  Long contiguous stretches of homozygosity in the human genome.

Authors:  Ling-Hui Li; Sheng-Feng Ho; Chien-Hsiun Chen; Chun-Yu Wei; Wan-Ching Wong; Li-Ying Li; Shuen-Iu Hung; Wen-Hung Chung; Wen-Han Pan; Ming-Ta M Lee; Fuu-Jen Tsai; Ching-Fen Chang; Jer-Yuarn Wu; Yuan-Tsong Chen
Journal:  Hum Mutat       Date:  2006-11       Impact factor: 4.878

8.  High resolution Y chromosome typing: 19 STRs amplified in three multiplex reactions.

Authors:  Elena Bosch; Andrew C Lee; Francesc Calafell; Eduardo Arroyo; Peter Henneman; Peter de Knijff; Mark A Jobling
Journal:  Forensic Sci Int       Date:  2002-01-24       Impact factor: 2.395

9.  Global variation in copy number in the human genome.

Authors:  Richard Redon; Shumpei Ishikawa; Karen R Fitch; Lars Feuk; George H Perry; T Daniel Andrews; Heike Fiegler; Michael H Shapero; Andrew R Carson; Wenwei Chen; Eun Kyung Cho; Stephanie Dallaire; Jennifer L Freeman; Juan R González; Mònica Gratacòs; Jing Huang; Dimitrios Kalaitzopoulos; Daisuke Komura; Jeffrey R MacDonald; Christian R Marshall; Rui Mei; Lyndal Montgomery; Kunihiro Nishimura; Kohji Okamura; Fan Shen; Martin J Somerville; Joelle Tchinda; Armand Valsesia; Cara Woodwark; Fengtang Yang; Junjun Zhang; Tatiana Zerjal; Jane Zhang; Lluis Armengol; Donald F Conrad; Xavier Estivill; Chris Tyler-Smith; Nigel P Carter; Hiroyuki Aburatani; Charles Lee; Keith W Jones; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2006-11-23       Impact factor: 49.962

10.  Genes mirror geography within Europe.

Authors:  John Novembre; Toby Johnson; Katarzyna Bryc; Zoltán Kutalik; Adam R Boyko; Adam Auton; Amit Indap; Karen S King; Sven Bergmann; Matthew R Nelson; Matthew Stephens; Carlos D Bustamante
Journal:  Nature       Date:  2008-08-31       Impact factor: 49.962

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  92 in total

1.  Polymorphic NumtS trace human population relationships.

Authors:  Martin Lang; Marco Sazzini; Francesco Maria Calabrese; Domenico Simone; Alessio Boattini; Giovanni Romeo; Donata Luiselli; Marcella Attimonelli; Giuseppe Gasparre
Journal:  Hum Genet       Date:  2011-12-08       Impact factor: 4.132

2.  Shared and unique components of human population structure and genome-wide signals of positive selection in South Asia.

Authors:  Mait Metspalu; Irene Gallego Romero; Bayazit Yunusbayev; Gyaneshwer Chaubey; Chandana Basu Mallick; Georgi Hudjashov; Mari Nelis; Reedik Mägi; Ene Metspalu; Maido Remm; Ramasamy Pitchappan; Lalji Singh; Kumarasamy Thangaraj; Richard Villems; Toomas Kivisild
Journal:  Am J Hum Genet       Date:  2011-12-09       Impact factor: 11.025

3.  Dissecting the genetic make-up of North-East Sardinia using a large set of haploid and autosomal markers.

Authors:  Luba M Pardo; Giovanna Piras; Rosanna Asproni; Kristiaan J van der Gaag; Attilio Gabbas; Andres Ruiz-Linares; Peter de Knijff; Maria Monne; Patrizia Rizzu; Peter Heutink
Journal:  Eur J Hum Genet       Date:  2012-02-29       Impact factor: 4.246

4.  Parallel adaptation: one or many waves of advance of an advantageous allele?

Authors:  Peter Ralph; Graham Coop
Journal:  Genetics       Date:  2010-07-26       Impact factor: 4.562

5.  Population structure with localized haplotype clusters.

Authors:  Sharon R Browning; Bruce S Weir
Journal:  Genetics       Date:  2010-05-10       Impact factor: 4.562

6.  Inferring genetic ancestry: opportunities, challenges, and implications.

Authors:  Charmaine D Royal; John Novembre; Stephanie M Fullerton; David B Goldstein; Jeffrey C Long; Michael J Bamshad; Andrew G Clark
Journal:  Am J Hum Genet       Date:  2010-05-14       Impact factor: 11.025

7.  Using environmental correlations to identify loci underlying local adaptation.

Authors:  Graham Coop; David Witonsky; Anna Di Rienzo; Jonathan K Pritchard
Journal:  Genetics       Date:  2010-06-01       Impact factor: 4.562

8.  Population structure and genome-wide patterns of variation in Ireland and Britain.

Authors:  Colm T O'Dushlaine; Derek Morris; Valentina Moskvina; George Kirov; Michael Gill; Aiden Corvin; James F Wilson; Gianpiero L Cavalleri
Journal:  Eur J Hum Genet       Date:  2010-06-23       Impact factor: 4.246

Review 9.  Fine-scale population structure and the era of next-generation sequencing.

Authors:  Brenna M Henn; Simon Gravel; Andres Moreno-Estrada; Suehelay Acevedo-Acevedo; Carlos D Bustamante
Journal:  Hum Mol Genet       Date:  2010-09-28       Impact factor: 6.150

10.  Genetic structure of the Spanish population.

Authors:  Javier Gayán; José J Galan; Antonio González-Pérez; María Eugenia Sáez; María Teresa Martínez-Larrad; Carina Zabena; M Carmen Rivero; Ana Salinas; Reposo Ramírez-Lorca; Francisco J Morón; Jose Luis Royo; Concha Moreno-Rey; Juan Velasco; José M Carrasco; Eva Molero; Carolina Ochoa; María Dolores Ochoa; Marta Gutiérrez; Mercedes Reina; Rocío Pascual; Alejandro Romo-Astorga; Juan Luis Susillo-González; Enrique Vázquez; Luis M Real; Agustín Ruiz; Manuel Serrano-Ríos
Journal:  BMC Genomics       Date:  2010-05-25       Impact factor: 3.969

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