Genomic analysis

Definition

Genomic analysis is the identification, measurement or comparison of genomic features such as DNA sequence, structural variation, gene expression, or regulatory and functional element annotation at a genomic scale. Methods for genomic analysis typically require high-throughput sequencing or microarray hybridization and bioinformatics.

Featured

Latest Research and Reviews

  • Research |

    Whole-genome sequencing data of 14,688 Icelanders, including 1,548 parent–offspring trios, show how the age and sex of parents affect the rate and spectrum of de novo mutations.

    • Hákon Jónsson
    • , Patrick Sulem
    • , Birte Kehr
    • , Snaedis Kristmundsdottir
    • , Florian Zink
    • , Eirikur Hjartarson
    • , Marteinn T. Hardarson
    • , Kristjan E. Hjorleifsson
    • , Hannes P. Eggertsson
    • , Sigurjon Axel Gudjonsson
    • , Lucas D. Ward
    • , Gudny A. Arnadottir
    • , Einar A. Helgason
    • , Hannes Helgason
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , Thorunn Rafnar
    • , Mike Frigge
    • , Simon N. Stacey
    • , Olafur Th. Magnusson
    • , Unnur Thorsteinsdottir
    • , Gisli Masson
    • , Augustine Kong
    • , Bjarni V. Halldorsson
    • , Agnar Helgason
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
  • Research | | open

    The Singapore Genome Variation projects characterized the genetics of Singapore’s Chinese, Malay, and Indian populations. The Singapore Integrative Omics Study introduced here goes further in providing multi-omic measurements in individuals from these populations, including genetic, transcriptome, lipidome, and lifestyle data, and will facilitate the study of common diseases in Asian communities.

    • Woei-Yuh Saw
    • , Erwin Tantoso
    • , Husna Begum
    • , Lihan Zhou
    • , Ruiyang Zou
    • , Cheng He
    • , Sze Ling Chan
    • , Linda Wei-Lin Tan
    • , Lai-Ping Wong
    • , Wenting Xu
    • , Don Kyin Nwe Moong
    • , Yenly Lim
    • , Bowen Li
    • , Nisha Esakimuthu Pillai
    • , Trevor A. Peterson
    • , Tomasz Bielawny
    • , Peter J. Meikle
    • , Piyushkumar A. Mundra
    • , Wei-Yen Lim
    • , Ma Luo
    • , Kee-Seng Chia
    • , Rick Twee-Hee Ong
    • , Liam R. Brunham
    • , Chiea-Chuen Khor
    • , Heng Phon Too
    • , Richie Soong
    • , Markus R. Wenk
    • , Peter Little
    •  & Yik-Ying Teo
  • Research | | open

    Amyotrophic lateral sclerosis (ALS) is a rapidly progressing neurodegenerative disease. Here, Wray and colleagues identify association of the GPX3-TNIP1 locus with ALS using cross-ethnic meta-analyses.

    • Beben Benyamin
    • , Ji He
    • , Qiongyi Zhao
    • , Jacob Gratten
    • , Fleur Garton
    • , Paul J. Leo
    • , Zhijun Liu
    • , Marie Mangelsdorf
    • , Ammar Al-Chalabi
    • , Lisa Anderson
    • , Timothy J. Butler
    • , Lu Chen
    • , Xiang-Ding Chen
    • , Katie Cremin
    • , Hong-Weng Deng
    • , Matthew Devine
    • , Janette Edson
    • , Jennifer A. Fifita
    • , Sarah Furlong
    • , Ying-Ying Han
    • , Jessica Harris
    • , Anjali K. Henders
    • , Rosalind L. Jeffree
    • , Zi-Bing Jin
    • , Zhongshan Li
    • , Ting Li
    • , Mengmeng Li
    • , Yong Lin
    • , Xiaolu Liu
    • , Mhairi Marshall
    • , Emily P. McCann
    • , Bryan J. Mowry
    • , Shyuan T. Ngo
    • , Roger Pamphlett
    • , Shu Ran
    • , David C. Reutens
    • , Dominic B. Rowe
    • , Perminder Sachdev
    • , Sonia Shah
    • , Sharon Song
    • , Li-Jun Tan
    • , Lu Tang
    • , Leonard H. Berg
    • , Wouter Rheenen
    • , Jan H. Veldink
    • , Robyn H. Wallace
    • , Lawrie Wheeler
    • , Kelly L. Williams
    • , Jinyu Wu
    • , Xin Wu
    • , Jian Yang
    • , Weihua Yue
    • , Zong-Hong Zhang
    • , Dai Zhang
    • , Peter G. Noakes
    • , Ian P. Blair
    • , Robert D. Henderson
    • , Pamela A. McCombe
    • , Peter M. Visscher
    • , Huji Xu
    • , Perry F. Bartlett
    • , Matthew A. Brown
    • , Naomi R. Wray
    •  & Dongsheng Fan
  • Research | | open

    • Hákon Jónsson
    • , Patrick Sulem
    • , Birte Kehr
    • , Snaedis Kristmundsdottir
    • , Florian Zink
    • , Eirikur Hjartarson
    • , Marteinn T. Hardarson
    • , Kristjan E. Hjorleifsson
    • , Hannes P. Eggertsson
    • , Sigurjon Axel Gudjonsson
    • , Lucas D. Ward
    • , Gudny A. Arnadottir
    • , Einar A. Helgason
    • , Hannes Helgason
    • , Arnaldur Gylfason
    • , Adalbjorg Jonasdottir
    • , Aslaug Jonasdottir
    • , Thorunn Rafnar
    • , Soren Besenbacher
    • , Michael L. Frigge
    • , Simon N. Stacey
    • , Olafur Th. Magnusson
    • , Unnur Thorsteinsdottir
    • , Gisli Masson
    • , Augustine Kong
    • , Bjarni V. Halldorsson
    • , Agnar Helgason
    • , Daniel F. Gudbjartsson
    •  & Kari Stefansson
    Scientific Data 4, 170115

News and Comment

  • News and Views |

    Pre-eclampsia is a common disorder of pregnancy for which the underlying mechanism is poorly understood. A genome-wide association study has now identified a pre-eclampsia susceptibility locus located near the FLT1 gene. This study brings us a step closer to dissecting the underlying causes of pre-eclampsia.

    • Eric M. George
    •  & Joey P. Granger
  • Editorial |

    A solution to screening for recessive heritable disorders and identifying genetic influences on common diseases is to be found in the history of one of the world's most populous regions. Large South Asian populations are a mosaic of smaller populations, many of which have founder effects as extreme as those in the European isolates that first inspired genetic medicine.

  • News and Views |

    An innovative study analyzing genetic association across tree-structured routine healthcare data in the UK Biobank represents a new branch on a tree that is poised to grow rapidly and offer new kinds of insights on how genome variation relates to human health and disease. Indeed, this tree is likely to offer new kinds of insights into the very nature of human disease.

    • Nancy J Cox
    Nature Genetics 49, 1295–1296
  • News and Views |

    Genetic and functional analyses of 120 mouse strains have identified a heart regeneration candidate gene that modulates the contractile sarcomeric apparatus. This gene, Tnni3k, controls the frequency of the mononuclear, diploid cardiomyocyte population, which affects cardiomyocyte proliferative potential after injury.

    • Ana Vujic
    • , Vinícius Bassaneze
    •  & Richard T Lee
    Nature Genetics 49, 1292–1293