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

  • Reviews |

    Including diverse populations in genomic studies has the potential to improve the use of genomic data in the clinic. Here, members of the National Human Genome Research Institute review the benefits of increasing diversity, the challenges to overcome and key recommendations for how to achieve this goal.

    • Lucia A. Hindorff
    • , Vence L. Bonham
    • , Lawrence C. Brody
    • , Margaret E. C. Ginoza
    • , Carolyn M. Hutter
    • , Teri A. Manolio
    •  & Eric D. Green
  • Research |

    Whole-genome resequencing of 97 wolves from a highly inbred population reveals complete homozygosity of entire chromosomes in many individuals and characterizes the genomic consequences of intensive inbreeding.

    • Marty Kardos
    • , Mikael Åkesson
    • , Toby Fountain
    • , Øystein Flagstad
    • , Olof Liberg
    • , Pall Olason
    • , Håkan Sand
    • , Petter Wabakken
    • , Camilla Wikenros
    •  & Hans Ellegren
  • Research |

    GC-biased gene conversion has many implications for our evolutionary genetics, but its prevalence is unknown. Here, direct sequencing of tetrads in four species shows large differences in gene-conversion rate but no evidence of overall GC bias.

    • Haoxuan Liu
    • , Ju Huang
    • , Xiaoguang Sun
    • , Jing Li
    • , Yingwen Hu
    • , Luyao Yu
    • , Gianni Liti
    • , Dacheng Tian
    • , Laurence D. Hurst
    •  & Sihai Yang
  • Research | | open

    Genetic variance can influence breast cancer prognosis. Here, the authors conduct a meta-analysis to explore genetic variance linked to breast cancer in young women, identifying a prognostic association with germline variation of ADAMTSL1.

    • Latha Kadalayil
    • , Sofia Khan
    • , Heli Nevanlinna
    • , Peter A. Fasching
    • , Fergus J. Couch
    • , John L. Hopper
    • , Jianjun Liu
    • , Tom Maishman
    • , Lorraine Durcan
    • , Sue Gerty
    • , Carl Blomqvist
    • , Brigitte Rack
    • , Wolfgang Janni
    • , Andrew Collins
    • , Diana Eccles
    •  & William Tapper
  • Research | | open

    Physical mapping of DNA can be used to detect structural variants and for whole-genome haplotype assembly. Here, the authors use CRISPR-Cas9 and high-speed atomic force microscopy to ‘nanomap’ single molecules of DNA.

    • Andrey Mikheikin
    • , Anita Olsen
    • , Kevin Leslie
    • , Freddie Russell-Pavier
    • , Andrew Yacoot
    • , Loren Picco
    • , Oliver Payton
    • , Amir Toor
    • , Alden Chesney
    • , James K. Gimzewski
    • , Bud Mishra
    •  & Jason Reed

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