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.

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Latest Research and Reviews

  • Research |

    This study leverages coding variation observed among 123,136 individuals to create a detailed map of constrained coding regions in the human genome. This map may help identify critical regions within genes that, when mutated, cause embryonic lethality or severe developmental phenotypes.

    • James M. Havrilla
    • , Brent S. Pedersen
    • , Ryan M. Layer
    •  & Aaron R. Quinlan
  • Research | | open

    Genome sequencing of the fall webworm, a destructive pest in Europe and Asia, suggests changes in carbohydrate metabolism, gustatory receptors and silk-yielding associated with its rapid spread.

    • Ningning Wu
    • , Sufang Zhang
    • , Xiaowei Li
    • , Yanghui Cao
    • , Xiaojing Liu
    • , Qinghua Wang
    • , Qun Liu
    • , Huihui Liu
    • , Xiao Hu
    • , Xuguo J. Zhou
    • , Anthony A. James
    • , Zhen Zhang
    • , Yongping Huang
    •  & Shuai Zhan
  • Research | | open

    Studying the genetic underpinnings of physical activity and sleep duration can be confounded by self-reporting. Here, Doherty et al. use data from 91,105 UK Biobank participants, whose activity had been monitored for a week by a wearable device, for genome-wide association analysis and identify 14 loci.

    • Aiden Doherty
    • , Karl Smith-Byrne
    • , Teresa Ferreira
    • , Michael V. Holmes
    • , Chris Holmes
    • , Sara L. Pulit
    •  & Cecilia M. Lindgren
  • Research | | open

    Natural hair colour in Europeans is a complex genetic trait. Here, the authors carry out a genome-wide association study using UK BioBank data, suggesting that in combination with pigmentation genes, variants with roles in hair texture and growth can affect hair colouration or our perception of it.

    • Michael D. Morgan
    • , Erola Pairo-Castineira
    • , Konrad Rawlik
    • , Oriol Canela-Xandri
    • , Jonathan Rees
    • , David Sims
    • , Albert Tenesa
    •  & Ian J. Jackson
  • Research | | open

    Epilepsies are common brain disorders and are classified based on clinical phenotyping, imaging and genetics. Here, the authors perform genome-wide association studies for 3 broad and 7 subtypes of epilepsy and identify 16 loci - 11 novel - that are further annotated by eQTL and partitioned heritability analyses.

    • Bassel Abou-Khalil
    • , Pauls Auce
    • , Andreja Avbersek
    • , Melanie Bahlo
    • , David J. Balding
    • , Thomas Bast
    • , Larry Baum
    • , Albert J. Becker
    • , Felicitas Becker
    • , Bianca Berghuis
    • , Samuel F. Berkovic
    • , Katja E. Boysen
    • , Jonathan P. Bradfield
    • , Lawrence C. Brody
    • , Russell J. Buono
    • , Ellen Campbell
    • , Gregory D. Cascino
    • , Claudia B. Catarino
    • , Gianpiero L. Cavalleri
    • , Stacey S. Cherny
    • , Krishna Chinthapalli
    • , Alison J. Coffey
    • , Alastair Compston
    • , Antonietta Coppola
    • , Patrick Cossette
    • , John J. Craig
    • , Gerrit-Jan de Haan
    • , Peter De Jonghe
    • , Carolien G. F. de Kovel
    • , Norman Delanty
    • , Chantal Depondt
    • , Orrin Devinsky
    • , Dennis J. Dlugos
    • , Colin P. Doherty
    • , Christian E. Elger
    • , Johan G. Eriksson
    • , Thomas N. Ferraro
    • , Martha Feucht
    • , Ben Francis
    • , Andre Franke
    • , Jacqueline A. French
    • , Saskia Freytag
    • , Verena Gaus
    • , Eric B. Geller
    • , Christian Gieger
    • , Tracy Glauser
    • , Simon Glynn
    • , David B. Goldstein
    • , Hongsheng Gui
    • , Youling Guo
    • , Kevin F. Haas
    • , Hakon Hakonarson
    • , Kerstin Hallmann
    • , Sheryl Haut
    • , Erin L. Heinzen
    • , Ingo Helbig
    • , Christian Hengsbach
    • , Helle Hjalgrim
    • , Michele Iacomino
    • , Andrés Ingason
    • , Jennifer Jamnadas-Khoda
    • , Michael R. Johnson
    • , Reetta Kälviäinen
    • , Anne-Mari Kantanen
    • , Dalia Kasperavičiūte
    • , Dorothee Kasteleijn-Nolst Trenite
    • , Heidi E. Kirsch
    • , Robert C. Knowlton
    • , Bobby P. C. Koeleman
    • , Roland Krause
    • , Martin Krenn
    • , Wolfram S. Kunz
    • , Ruben Kuzniecky
    • , Patrick Kwan
    • , Dennis Lal
    • , Yu-Lung Lau
    • , Anna-Elina Lehesjoki
    • , Holger Lerche
    • , Costin Leu
    • , Wolfgang Lieb
    • , Dick Lindhout
    • , Warren D. Lo
    • , Iscia Lopes-Cendes
    • , Daniel H. Lowenstein
    • , Alberto Malovini
    • , Anthony G. Marson
    • , Thomas Mayer
    • , Mark McCormack
    • , James L. Mills
    • , Nasir Mirza
    • , Martina Moerzinger
    • , Rikke S. Møller
    • , Anne M. Molloy
    • , Hiltrud Muhle
    • , Mark Newton
    • , Ping-Wing Ng
    • , Markus M. Nöthen
    • , Peter Nürnberg
    • , Terence J. O’Brien
    • , Karen L. Oliver
    • , Aarno Palotie
    • , Faith Pangilinan
    • , Sarah Peter
    • , Slavé Petrovski
    • , Annapurna Poduri
    • , Michael Privitera
    • , Rodney Radtke
    • , Sarah Rau
    • , Philipp S. Reif
    • , Eva M. Reinthaler
    • , Felix Rosenow
    • , Josemir W. Sander
    • , Thomas Sander
    • , Theresa Scattergood
    • , Steven C. Schachter
    • , Christoph J. Schankin
    • , Ingrid E. Scheffer
    • , Bettina Schmitz
    • , Susanne Schoch
    • , Pak C. Sham
    • , Jerry J. Shih
    • , Graeme J. Sills
    • , Sanjay M. Sisodiya
    • , Lisa Slattery
    • , Alexander Smith
    • , David F. Smith
    • , Michael C. Smith
    • , Philip E. Smith
    • , Anja C. M. Sonsma
    • , Doug Speed
    • , Michael R. Sperling
    • , Bernhard J. Steinhoff
    • , Ulrich Stephani
    • , Remi Stevelink
    • , Konstantin Strauch
    • , Pasquale Striano
    • , Hans Stroink
    • , Rainer Surges
    • , K. Meng Tan
    • , Liu Lin Thio
    • , G. Neil Thomas
    • , Marian Todaro
    • , Rossana Tozzi
    • , Maria S. Vari
    • , Eileen P. G. Vining
    • , Frank Visscher
    • , Sarah von Spiczak
    • , Nicole M. Walley
    • , Yvonne G. Weber
    • , Zhi Wei
    • , Judith Weisenberg
    • , Christopher D. Whelan
    • , Peter Widdess-Walsh
    • , Markus Wolff
    • , Stefan Wolking
    • , Wanling Yang
    • , Federico Zara
    •  & Fritz Zimprich
  • Research | | open

    Northern tree populations may not benefit under climate change, with implications for assisted migration and range expansion. Here, Isaac-Renton et al. show that leading-edge lodgepole pine populations have fewer characteristics of drought-tolerance, so may not adapt to tolerate drier conditions.

    • Miriam Isaac-Renton
    • , David Montwé
    • , Andreas Hamann
    • , Heinrich Spiecker
    • , Paolo Cherubini
    •  & Kerstin Treydte

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