Genome informatics

Definition

Genome informatics is the field in which computer and statistical techniques are applied to derive biological information from genome sequences. Genome informatics includes methods to analyse DNA sequence information and to predict protein sequence and structure.

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
  • Reviews |

    This perspective presents a primer on deep learning applications for the genomics field. It includes a general guide for how to use deep learning and describes the current tools and resources that are available to the community.

    • James Zou
    • , Mikael Huss
    • , Abubakar Abid
    • , Pejman Mohammadi
    • , Ali Torkamani
    •  & Amalio Telenti
  • Research | | open

    Gene pairs that are coexpressed across various environmental conditions in multiple species suggest functional similarity. Here the authors analyze patterns of gene expression co-evolution across diverse eukaryotes, and identify hundreds of protein complexes and pathways whose gene expression levels have co-evolved since their ancient divergence.

    • Trevor Martin
    •  & Hunter B. Fraser
  • Research | | open

    Assembly of a pan-genome from 910 humans of African descent identifies 296.5 Mb of novel DNA mapping to 125,715 distinct contigs. This African pan-genome contains ~10% more DNA than the current human reference genome.

    • Rachel M. Sherman
    • , Juliet Forman
    • , Valentin Antonescu
    • , Daniela Puiu
    • , Michelle Daya
    • , Nicholas Rafaels
    • , Meher Preethi Boorgula
    • , Sameer Chavan
    • , Candelaria Vergara
    • , Victor E. Ortega
    • , Albert M. Levin
    • , Celeste Eng
    • , Maria Yazdanbakhsh
    • , James G. Wilson
    • , Javier Marrugo
    • , Leslie A. Lange
    • , L. Keoki Williams
    • , Harold Watson
    • , Lorraine B. Ware
    • , Christopher O. Olopade
    • , Olufunmilayo Olopade
    • , Ricardo R. Oliveira
    • , Carole Ober
    • , Dan L. Nicolae
    • , Deborah A. Meyers
    • , Alvaro Mayorga
    • , Jennifer Knight-Madden
    • , Tina Hartert
    • , Nadia N. Hansel
    • , Marilyn G. Foreman
    • , Jean G. Ford
    • , Mezbah U. Faruque
    • , Georgia M. Dunston
    • , Luis Caraballo
    • , Esteban G. Burchard
    • , Eugene R. Bleecker
    • , Maria I. Araujo
    • , Edwin F. Herrera-Paz
    • , Monica Campbell
    • , Cassandra Foster
    • , Margaret A. Taub
    • , Terri H. Beaty
    • , Ingo Ruczinski
    • , Rasika A. Mathias
    • , Kathleen C. Barnes
    •  & Steven L. Salzberg

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