Literature DB >> 27662060

Recent advances in the study of fine-scale population structure in humans.

John Novembre1, Benjamin M Peter2.   

Abstract

Empowered by modern genotyping and large samples, population structure can be accurately described and quantified even when it only explains a fraction of a percent of total genetic variance. This is especially relevant and interesting for humans, where fine-scale population structure can both confound disease-mapping studies and reveal the history of migration and divergence that shaped our species' diversity. Here we review notable recent advances in the detection, use, and understanding of population structure. Our work addresses multiple areas where substantial progress is being made: improved statistics and models for better capturing differentiation, admixture, and the spatial distribution of variation; computational speed-ups that allow methods to scale to modern data; and advances in haplotypic modeling that have wide ranging consequences for the analysis of population structure. We conclude by outlining four important open challenges: the limitations of discrete population models, uncertainty in individual origins, the incorporation of both fine-scale structure and ancient DNA in parametric models, and the development of efficient computational tools, particularly for haplotype-based methods.
Copyright © 2016 The Author(s). Published by Elsevier Ltd.. All rights reserved.

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Year:  2016        PMID: 27662060      PMCID: PMC5291306          DOI: 10.1016/j.gde.2016.08.007

Source DB:  PubMed          Journal:  Curr Opin Genet Dev        ISSN: 0959-437X            Impact factor:   5.578


  85 in total

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2.  Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies.

Authors:  Daniel Falush; Matthew Stephens; Jonathan K Pritchard
Journal:  Genetics       Date:  2003-08       Impact factor: 4.562

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Authors:  Graham Coop; David Witonsky; Anna Di Rienzo; Jonathan K Pritchard
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4.  Inference of human population history from individual whole-genome sequences.

Authors:  Heng Li; Richard Durbin
Journal:  Nature       Date:  2011-07-13       Impact factor: 49.962

5.  Population structure and eigenanalysis.

Authors:  Nick Patterson; Alkes L Price; David Reich
Journal:  PLoS Genet       Date:  2006-12       Impact factor: 5.917

6.  Reconstructing Past Admixture Processes from Local Genomic Ancestry Using Wavelet Transformation.

Authors:  Jean Sanderson; Herawati Sudoyo; Tatiana M Karafet; Michael F Hammer; Murray P Cox
Journal:  Genetics       Date:  2015-04-07       Impact factor: 4.562

7.  HaploPOP: a software that improves population assignment by combining markers into haplotypes.

Authors:  Nicolas Duforet-Frebourg; Lucie M Gattepaille; Michael G B Blum; Mattias Jakobsson
Journal:  BMC Bioinformatics       Date:  2015-07-31       Impact factor: 3.169

8.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

9.  Nonstationary patterns of isolation-by-distance: inferring measures of local genetic differentiation with Bayesian kriging.

Authors:  Nicolas Duforet-Frebourg; Michael G B Blum
Journal:  Evolution       Date:  2014-01-26       Impact factor: 3.694

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Authors:  Jeremy J Berg; Graham Coop
Journal:  PLoS Genet       Date:  2014-08-07       Impact factor: 5.917

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  25 in total

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Journal:  Sci Rep       Date:  2019-04-10       Impact factor: 4.379

Review 2.  OPENMENDEL: a cooperative programming project for statistical genetics.

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Journal:  Hum Genet       Date:  2019-03-26       Impact factor: 4.132

Review 3.  Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience.

Authors:  Sarah C Nelson; Stephanie M Gogarten; Stephanie M Fullerton; Carmen R Isasi; Braxton D Mitchell; Kari E North; Stephen S Rich; Matthew R G Taylor; Sebastian Zöllner; Tamar Sofer
Journal:  Am J Hum Genet       Date:  2022-09-01       Impact factor: 11.043

4.  Counter the weaponization of genetics research by extremists.

Authors:  Jedidiah Carlson; Brenna M Henn; Dana R Al-Hindi; Sohini Ramachandran
Journal:  Nature       Date:  2022-10       Impact factor: 69.504

5.  Fast and flexible estimation of effective migration surfaces.

Authors:  Joseph Marcus; Wooseok Ha; Rina Foygel Barber; John Novembre
Journal:  Elife       Date:  2021-07-30       Impact factor: 8.140

6.  Exploring Population Structure with Admixture Models and Principal Component Analysis.

Authors:  Chi-Chun Liu; Suyash Shringarpure; Kenneth Lange; John Novembre
Journal:  Methods Mol Biol       Date:  2020

7.  Fine-Scale Genetic Structure in Finland.

Authors:  Sini Kerminen; Aki S Havulinna; Garrett Hellenthal; Alicia R Martin; Antti-Pekka Sarin; Markus Perola; Aarno Palotie; Veikko Salomaa; Mark J Daly; Samuli Ripatti; Matti Pirinen
Journal:  G3 (Bethesda)       Date:  2017-10-05       Impact factor: 3.154

8.  Human bony labyrinth is an indicator of population history and dispersal from Africa.

Authors:  Marcia S Ponce de León; Toetik Koesbardiati; John David Weissmann; Marco Milella; Carlos S Reyna-Blanco; Gen Suwa; Osamu Kondo; Anna-Sapfo Malaspinas; Tim D White; Christoph P E Zollikofer
Journal:  Proc Natl Acad Sci U S A       Date:  2018-04-02       Impact factor: 11.205

9.  Fine population structure analysis method for genomes of many.

Authors:  Xuedong Pan; Yi Wang; Emily H M Wong; Amalio Telenti; J Craig Venter; Li Jin
Journal:  Sci Rep       Date:  2017-10-03       Impact factor: 4.379

10.  Dutch population structure across space, time and GWAS design.

Authors:  Ross P Byrne; Wouter van Rheenen; Leonard H van den Berg; Jan H Veldink; Russell L McLaughlin
Journal:  Nat Commun       Date:  2020-09-11       Impact factor: 14.919

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