Curated by
Harry Dietz et al

Human Genetics: A Collection of Articles

eLife editors present a collection of studies in human genetics published in the journal.
Collection

eLife welcomes studies in all areas of human genetics. In particular we welcome: studies that use human genetics to drive risk variant discovery, and which use this information to provide further mechanistic insights into disease biology; studies that use human genetics to dissect the genetic architecture of disease and/or explore the relationship to environment; and studies that use human genetics to support translational advances (for example, with respect to risk stratification, disease subtyping or response to interventions).

More articles on human genetics can be found on our subject pages for Genes and Chromosomes, Genomics and Evolutionary Biology, and Human Biology and Medicine.

Collection

    1. Human Biology and Medicine

    Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

    Bianca Hartmann et al
    Mutations affecting a nuclear encoded metalloprotease cause of a new form of mitochondriopathy, highlighting the importance of this protease for mitochondrial function in humans.
    Research Article Updated
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Computational and Systems Biology
    2. Genomics and Evolutionary Biology

    Predicting effective microRNA target sites in mammalian mRNAs

    Vikram Agarwal et al
    Many experimentally identified microRNA-binding sites are ineffective at mediating repression, and an improved quantitative model for predicting the effective sites is as informative as high-throughput experimental approaches.
    Research Article
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Genomics and Evolutionary Biology

    Admixture into and within sub-Saharan Africa

    George BJ Busby et al
    Gene flow analysis reveals that the genomes of most sub-Saharan populations are the result of recent historical admixture events.
    Research Article
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Genomics and Evolutionary Biology
    2. Human Biology and Medicine

    Discovery and validation of sub-threshold genome-wide association study loci using epigenomic signatures

    Xinchen Wang et al
    Epigenomic signatures overlapping disease-associated variants from genome-wide association studies help prioritize new variants in sub-threshold loci whose biological relevance is experimentally confirmed.
    Research Article
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Genomics and Evolutionary Biology
    2. Human Biology and Medicine

    Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

    Prithvi Raj et al
    Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.
    Research Article Updated
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Human Biology and Medicine
    2. Neuroscience

    Mutation in ATG5 reduces autophagy and leads to ataxia with developmental delay

    Myungjin Kim et al
    A genetic mutation that impairs autophagic flux leads to neurodegeneration and can cause ataxia and developmental delay in children.
    Research Article Updated
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Human Biology and Medicine

    An internal promoter underlies the difference in disease severity between N- and C-terminal truncation mutations of Titin in zebrafish

    Jun Zou et al
    The newly discovered Titin internal promoter may explain why the severity of dilated cardiomyopathy in patients with truncating mutations in Titin varies dramatically depending on position of the mutation.
    Research Article Updated
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf
    1. Genes and Chromosomes
    2. Human Biology and Medicine

    Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism

    Ute I Scholl et al
    A novel Mendelian disease featuring early-onset hypertension is caused by a recurrent gain of function mutation in CACNA1H, which encodes the voltage-gated calcium channel Cav3.2.
    Research Article
    Available as full, typeset article htmlAvailable as authors' accepted manuscript pdf

Contributors

  1. Harry Dietz
    Harry Dietz
    Senior Editor
  2. Mark McCarthy
    Mark McCarthy
    Senior Editor
  3. Tonu Esko
    Reviewing Editor
  4. Jonathan Flint
    Reviewing Editor
  5. David Ginsburg
    Reviewing Editor
  6. Joseph G Gleeson
    Reviewing Editor
  7. Helen Hobbs
    Reviewing Editor
  8. Ruth Loos
    Reviewing Editor
  9. Andrew Morris
    Reviewing Editor