Genetics and Genomics

Genetics and Genomics

eLife reviews research including the genetic basis of health and disease, epigenetics, genomics, medical genetics, genetic epidemiology, and population genetics. Learn more about what we review and sign up for the latest research.
Illustration by Davide Bonazzi

Latest articles

    1. Genetics and Genomics
    2. Neuroscience

    Impaired excitability of fast-spiking neurons in a novel mouse model of KCNC1 epileptic encephalopathy

    Eric R Wengert, Sophie R Liebergall ... Ethan M Goldberg
    Brain slice electrophysiology, immunohistochemistry, and in vivo two-photon calcium imaging identify circuit dysfunction and epilepsy mechanism in a Kcnc1-A421V/+ mouse model of developmental and epileptic encephalopathy.
    1. Biochemistry and Chemical Biology
    2. Genetics and Genomics

    Determining the off-target activity of antibiotics and novel translation initiation sites in mitochondria

    James Marks, Emma Young, Markus Hafner
    Revised
    Reviewed Preprint v2
    Updated
    • Valuable
    • Solid
    1. Genetics and Genomics

    SETDB1 enables development beyond cleavage stages by extinguishing the MERVL-driven two-cell totipotency transcriptional program in the mouse embryo

    Tie-Bo Zeng, Zhen Fu ... Piroska E Szabó
    Conditional genetics and single-embryo RNA-seq show that SETDB1 extinguishes the transient, retroelement-driven transcriptional programs of the totipotent two-cell state to facilitate the exit from totipotency and ensure preimplantation development.
    1. Genetics and Genomics

    Visible traits demonstrate that crispant founder mice can be used for phenotypic assessment

    Rebekah Tillotson, Marina Gertsenstein ... Monica J Justice
    Not revised
    Reviewed Preprint v1
    • Important
    • Convincing
    1. Genetics and Genomics

    Ribosomal RNA synthesis by RNA polymerase I is subject to premature termination of transcription

    Chaïma Azouzi, Katrin Schwank ... Christophe Dez
    Premature termination of transcription influences ribosomal RNA output and RNA polymerase I drug sensitivity, revealing a mechanism of resistance to transcription-targeting chemotherapy.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Heterogeneous associations of polygenic indices of 35 traits with mortality: a register-linked population-based follow-up study

    Hannu Lahtinen, Jaakko Kaprio ... Pekka Martikainen
    Polygenic indices related to the best-established social, psychological, and behavioural mortality risk phenotypes had the strongest associations with mortality.
    1. Developmental Biology
    2. Genetics and Genomics

    Equity, Diversity and Inclusion: Four women whose pioneering contributions to science have been largely overlooked

    Lisa M Thomann, Julie Batut
    Ethel Browne Harvey, Hilde Pröscholdt Mangold, Ida Henrietta Hyde and Marthe Gautier all made important contributions to developmental biology, but their names are largely absent from histories of science.
    1. Developmental Biology
    2. Genetics and Genomics

    PRMT1-SFPQ regulates intron retention to control matrix gene expression during craniofacial development

    Julia Raulino Lima, Nicha Ungvijanpunya ... Jian Xu
    Revised
    Reviewed Preprint v2
    Updated
    • Important
    • Solid
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    EPB41L4A-AS1 long noncoding RNA acts in both cis- and trans-acting transcriptional regulation and controls nucleolar biology

    Alan Monziani, Juan Pablo Unfried ... Igor Ulitsky
    Revised
    Reviewed Preprint v2
    Updated
    • Important
    • Convincing

Senior editors

  1. Kathryn Cheah
    The University of Hong Kong, Hong Kong SAR China
  2. Murim Choi
    Seoul National University College of Medicine, South Korea
  3. Yamini Dalal
    National Cancer Institute, United States
  4. See more editors