Genetic variation

Genetic variation describes the genotypic and phenotypic differences between individuals in a population, and between populations. This variation arises through genetic mutation and is important as it provides the diversity within and between populations required for natural selection.

Latest Research and Reviews

  • Research
    | Open Access

    The human reference genome does not fully reflect human genetic diversity. Here, the authors analyse 338 human genome assemblies from diverse populations to identify missing sequences, define non-reference unique insertions and construct a Human Diversity Reference.

    • Karen H. Y. Wong
    • , Walfred Ma
    • , Chun-Yu Wei
    • , Erh-Chan Yeh
    • , Wan-Jia Lin
    • , Elin H. F. Wang
    • , Jen-Ping Su
    • , Feng-Jen Hsieh
    • , Hsiao-Jung Kao
    • , Hsiao-Huei Chen
    • , Stephen K. Chow
    • , Eleanor Young
    • , Catherine Chu
    • , Annie Poon
    • , Chi-Fan Yang
    • , Dar-Shong Lin
    • , Yu-Feng Hu
    • , Jer-Yuarn Wu
    • , Ni-Chung Lee
    • , Wuh-Liang Hwu
    • , Dario Boffelli
    • , David Martin
    • , Ming Xiao
    •  & Pui-Yan Kwok
  • Research |

    Whole-genome sequencing analyses of African populations provide insights into continental migration, gene flow and the response to human disease, highlighting the importance of including diverse populations in genomic analyses to understand human ancestry and improve health.

    • Ananyo Choudhury
    • , Shaun Aron
    • , Laura R. Botigué
    • , Dhriti Sengupta
    • , Gerrit Botha
    • , Taoufik Bensellak
    • , Gordon Wells
    • , Judit Kumuthini
    • , Daniel Shriner
    • , Yasmina J. Fakim
    • , Anisah W. Ghoorah
    • , Eileen Dareng
    • , Trust Odia
    • , Oluwadamilare Falola
    • , Ezekiel Adebiyi
    • , Scott Hazelhurst
    • , Gaston Mazandu
    • , Oscar A. Nyangiri
    • , Mamana Mbiyavanga
    • , Alia Benkahla
    • , Samar K. Kassim
    • , Nicola Mulder
    • , Sally N. Adebamowo
    • , Emile R. Chimusa
    • , Donna Muzny
    • , Ginger Metcalf
    • , Richard A. Gibbs
    • , Enock Matovu
    • , Bruno Bucheton
    • , Christiane Hertz-Fowler
    • , Mathurin Koffi
    • , Annette Macleod
    • , Dieudonne Mumba-Ngoyi
    • , Harry Noyes
    • , Oscar A. Nyangiri
    • , Gustave Simo
    • , Martin Simuunza
    • , Charles Rotimi
    • , Michèle Ramsay
    • , Ananyo Choudhury
    • , Shaun Aron
    • , Laura Botigué
    • , Dhriti Sengupta
    • , Gerrit Botha
    • , Taoufik Bensellak
    • , Gordon Wells
    • , Judit Kumuthini
    • , Daniel Shriner
    • , Yasmina J. Fakim
    • , Anisah W. Ghoorah
    • , Eileen Dareng
    • , Trust Odia
    • , Oluwadamilare Falola
    • , Ezekiel Adebiyi
    • , Scott Hazelhurst
    • , Gaston Mazandu
    • , Oscar A. Nyangiri
    • , Mamana Mbiyavanga
    • , Alia Benkahla
    • , Samar K. Kassim
    • , Nicola Mulder
    • , Sally N. Adebamowo
    • , Emile R. Chimusa
    • , Charles Rotimi
    • , Michèle Ramsay
    • , Adebowale A. Adeyemo
    • , Zané Lombard
    • , Neil A. Hanchard
    • , Clement Adebamowo
    • , Godfred Agongo
    • , Romuald P. Boua
    • , Abraham Oduro
    • , Hermann Sorgho
    • , Guida Landouré
    • , Lassana Cissé
    • , Salimata Diarra
    • , Oumar Samassékou
    • , Gabriel Anabwani
    • , Mogomotsi Matshaba
    • , Moses Joloba
    • , Adeodata Kekitiinwa
    • , Graeme Mardon
    • , Sununguko W. Mpoloka
    • , Samuel Kyobe
    • , Busisiwe Mlotshwa
    • , Savannah Mwesigwa
    • , Gaone Retshabile
    • , Lesedi Williams
    • , Ambroise Wonkam
    • , Ahmed Moussa
    • , Dwomoa Adu
    • , Akinlolu Ojo
    • , David Burke
    • , Babatunde O. Salako
    • , Enock Matovu
    • , Bruno Bucheton
    • , Christiane Hertz-Fowler
    • , Mathurin Koffi
    • , Annette Macleod
    • , Dieudonne Mumba-Ngoyi
    • , Harry Noyes
    • , Oscar A. Nyangiri
    • , Gustave Simo
    • , Martin Simuunza
    • , Philip Awadalla
    • , Vanessa Bruat
    • , Elias Gbeha
    • , Adebowale A. Adeyemo
    • , Zané Lombard
    •  & Neil A. Hanchard
    Nature 586, 741-748
  • Research
    | Open Access

    The perennial grass Miscanthus is a promising biomass crop. Here, via genomics and transcriptomics, the authors reveal its allotetraploid origin, characterize gene expression associated with rhizome development and nutrient recycling, and describe the hybrid origin of the triploid M. x giganteus.

    • Therese Mitros
    • , Adam M. Session
    • , Brandon T. James
    • , Guohong Albert Wu
    • , Mohammad B. Belaffif
    • , Lindsay V. Clark
    • , Shengqiang Shu
    • , Hongxu Dong
    • , Adam Barling
    • , Jessica R. Holmes
    • , Jessica E. Mattick
    • , Jessen V. Bredeson
    • , Siyao Liu
    • , Kerrie Farrar
    • , Katarzyna Głowacka
    • , Stanisław Jeżowski
    • , Kerrie Barry
    • , Won Byoung Chae
    • , John A. Juvik
    • , Justin Gifford
    • , Adebosola Oladeinde
    • , Toshihiko Yamada
    • , Jane Grimwood
    • , Nicholas H. Putnam
    • , Jose De Vega
    • , Susanne Barth
    • , Manfred Klaas
    • , Trevor Hodkinson
    • , Laigeng Li
    • , Xiaoli Jin
    • , Junhua Peng
    • , Chang Yeon Yu
    • , Kweon Heo
    • , Ji Hye Yoo
    • , Bimal Kumar Ghimire
    • , Iain S. Donnison
    • , Jeremy Schmutz
    • , Matthew E. Hudson
    • , Erik J. Sacks
    • , Stephen P. Moose
    • , Kankshita Swaminathan
    •  & Daniel S. Rokhsar

News and Comment

  • Research Highlights |

    The GTEx consortium reports results from its third and final phase in several new papers. They provide unprecedented detail of human gene expression regulation across tissues.

    • Darren J. Burgess
  • Research Highlights |

    A new study in Science uses chromatin accessibility profiles to reveal gene regulatory alterations associated with genetic variants in neuropsychiatric disease.

    • Darren J. Burgess
  • Research Highlights |

    A study in PNAS describes a maternal-effect killer supergene that regulates social behaviour in Alpine silver ants. Queens carrying the ‘killer’ haplotype fail to produce live progeny homozygous for the alternative haplotype, ensuring all colonies adopt a multiple-queen, rather than single-queen, social structure.

    • Dorothy Clyde
  • Research Highlights |

    A study in Nature analysing genome-wide variation in individuals from islands across Polynesia reports evidence of admixture with Native Americans related to Indigenous inhabitants of northern South America.

    • Linda Koch
  • Research Highlights |

    Structural variants have proved difficult to characterize using traditional sequencing approaches. In two new studies in Cell, the authors demonstrate the use of pan-genome approaches to identify and explore the impact of structural variants in crop genomes and reveal variants linked to specific agronomic traits.

    • Joseph Willson