1. Trumpet plots: Visualizing The Relationship Between Allele Frequency And Effect Size In Genetic Association Studies

    This article has 4 authors:
    1. Lucia Corte
    2. Lathan Liou
    3. Paul F. O’Reilly
    4. Judit García-González
    This article has been curated by 1 group:
    • Curated by GigaByte

      **Editors Assessment: **

      This work presents a new standardized graphical approach for visualizing genetic associations across a wide range of allele frequencies. These proposed TrumpetPlots have a distinctive trumpet shape, hence the proposed name. With the majority of variants having low frequency and small effects, while a small number of variants have higher frequency and larger effects, this view can help to provide new and valuable insights into the genetic basis of traits and diseases, and also help prioritize efforts to discover new risk variants. The tool is provided as a novel R package and R Shiny application and to demonstrate its use the article illustrates the distribution of variant effect sizes across the allele frequency range for over 100 continuous traits available in the UK Biobank. After some problems in testing the package is now available and easy to deploy via CRAN.

      *This assessment refers to version 1 of this preprint. *

    Reviewed by GigaByte

    This article has 3 evaluationsAppears in 2 listsLatest version Latest activity
  2. Genetic inactivation of zinc transporter SLC39A5 improves liver function and hyperglycemia in obesogenic settings

    This article has 27 authors:
    1. Shek Man Chim
    2. Kristen Howell
    3. John Dronzek
    4. Weizhen Wu
    5. Cristopher Van Hout
    6. Manuel AR Ferreira
    7. Bin Ye
    8. Alexander Li
    9. Susannah Brydges
    10. Vinayagam Arunachalam
    11. Anthony Marcketta
    12. Adam E Locke
    13. Jonas Bovijn
    14. Niek Verweij
    15. Tanima De
    16. Luca Lotta
    17. Lyndon Mitnaul
    18. Michelle LeBlanc
    19. Regeneron Genetics Center
    20. David J Carey
    21. Olle Melander
    22. Alan Shuldiner
    23. Katia Karalis
    24. Aris N Economides
    25. Harikiran Nistala
    26. DiscovEHR collaboration
    27. Regeneron Genetics Center
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This fundamental study substantially advances our understanding of the role of zinc in metabolism, specifically a newly established clinical link between mutations in the zinc transporter SLC39A5, elevated serum zinc levels, and a reduction in the risk of Type 2 Diabetes. The provided evidence is solid with state-of-the-art genetic analysis of large human cohorts followed by a comprehensive analysis of a mouse SLC39A5 knockout mutant, establishing that SLC39A5 plays a role in hepatic lipid handling through AMPK signaling, although the limited analysis of a pancreatic phenotype that has previously been described constitutes a weakness. This study will be of relevance to researchers interested in metabolism, fatty liver disease, and the biology of trace elements.

    Reviewed by eLife

    This article has 4 evaluationsAppears in 1 listLatest version Latest activity
  3. Association between APOL1 risk variants and the occurrence of sepsis in Black patients hospitalized with infections: a retrospective cohort study

    This article has 12 authors:
    1. Lan Jiang
    2. Ge Liu
    3. Annette Oeser
    4. Andrea Ihegword
    5. Alyson L Dickson
    6. Laura L Daniel
    7. Adriana M Hung
    8. Nancy J Cox
    9. Cecilia P Chung
    10. Wei-Qi Wei
    11. C Michael Stein
    12. Qiping Feng
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      In this valuable study, patients homozygous for both minor frequency alleles of the APOL1 gene are shown to be at significant risk for progression into sepsis after infection. The study has enrolled a significant number of subjects and provides solid results. The study addresses to infectious diseases and critical care experts and one major weakness is the lack of inclusion of non-Black patients.

    Reviewed by eLife

    This article has 5 evaluationsAppears in 1 listLatest version Latest activity
  4. Polymorphisms in Intron 1 of HLA-DRA Differentially Associate with Type 1 Diabetes and Celiac Disease and Implicate Involvement of Complement System Genes C4A and C4B

    This article has 15 authors:
    1. Özkan Aydemir
    2. Jeffrey A. Bailey
    3. Daniel Agardh
    4. Åke Lernmark
    5. Janelle A. Noble
    6. Agnes Andersson Svärd
    7. Elizabeth P. Blankenhorn
    8. Hemang Parikh
    9. Anette-G. Ziegler
    10. Jorma Toppari
    11. Beena Akolkar
    12. William A. Hagopian
    13. Marian J. Rewers
    14. John P. Mordes
    15. TEDDY Study Group
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This study presents valuable findings on genetic risk factors for type 1 diabetes and celiac disease using a large cohort from the Environmental Determinants of Diabetes in the Young (TEDDY) study. The evidence supporting the claims of the authors is solid, although the inclusion of the genetic effect of this locus on individuals with different genetic backgrounds would have strengthened the study. The work will be of interest to population geneticists working on diabetes and celiac disease.

    Reviewed by eLife

    This article has 3 evaluationsAppears in 1 listLatest version Latest activity
  5. PYCR1 Levels Track with Premature and Chronological Skin Aging

    This article has 20 authors:
    1. Kortessa Sotiropoulou
    2. Saniye Yumlu
    3. Tomoko Hirano
    4. Michael Maier
    5. Abigail Loh
    6. Peh Fern Ong
    7. Onn Siong Yim
    8. Chunping Liu
    9. Emmanuel Vial
    10. Umut Altunoğlu
    11. Sheela Nampoothiri
    12. Deepthi de Silva
    13. Björn Fischer-Zirnsak
    14. Hülya Kayserili
    15. Poh San Lai
    16. Oliver Dreesen
    17. Kenji Kabashima
    18. Uwe Kornak
    19. Nathalie Escande-Beillard
    20. Bruno Reversade
    This article has been curated by 1 group:
    • Curated by eLife

      eLife assessment

      This manuscript uses genetic mouse modeling to delve deeper into a rare human disease of aging. The targeted approaches employed lend greater pathophysiologic insight and makes this paper valuable to the field art large. Additionally, the approaches used are rigorous and solid in supporting their conclusions. Some minor weaknesses were noted along with suggestions to add greater clarity.

    Reviewed by eLife, preLights

    This article has 4 evaluationsAppears in 3 listsLatest version Latest activity
  6. Genetic associations for two biological age measures point to distinct aging phenotypes

    This article has 5 authors:
    1. Chia‐Ling Kuo
    2. Luke C. Pilling
    3. Zuyun Liu
    4. Janice L. Atkins
    5. Morgan E. Levine

    Reviewed by ScreenIT

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
  7. SARS-CoV-2 spread across the Colombian-Venezuelan border

    This article has 24 authors:
    1. Alberto Paniz-Mondolfi
    2. Marina Muñoz
    3. Carolina Florez
    4. Sergio Gomez
    5. Angelica Rico
    6. Lisseth Pardo
    7. Esther C. Barros
    8. Carolina Hernández
    9. Lourdes Delgado
    10. Jesús E. Jaimes
    11. Luis Pérez
    12. Aníbal A. Teherán
    13. Hala Alejel Alshammary
    14. Ajay Obla
    15. Zenab Khan
    16. Jayeeta Dutta
    17. Adriana van de Guchte
    18. Ana S. Gonzalez-Reiche
    19. Matthew M. Hernandez
    20. Emilia Mia Sordillo
    21. Viviana Simon
    22. Harm van Bakel
    23. Martin S. Llewellyn
    24. Juan David Ramírez

    Reviewed by ScreenIT

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
  8. Polymorphisms in the ACE2 Locus Associate with Severity of COVID-19 Infection

    This article has 5 authors:
    1. Luke Wooster
    2. Christopher J. Nicholson
    3. Haakon H. Sigurslid
    4. Christian L. Lino Cardenas
    5. Rajeev Malhotra

    Reviewed by ScreenIT

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
  9. Metabolomics and computational analysis of the role of monoamine oxidase activity in delirium and SARS-COV-2 infection

    This article has 11 authors:
    1. Miroslava Cuperlovic-Culf
    2. Emma L. Cunningham
    3. Hossen Teimoorinia
    4. Anuradha Surendra
    5. Xiaobei Pan
    6. Steffany A. L. Bennett
    7. Mijin Jung
    8. Bernadette McGuiness
    9. Anthony Peter Passmore
    10. David Beverland
    11. Brian D. Green

    Reviewed by ScreenIT

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
  10. Analysis of Genetic Host Response Risk Factors in Severe COVID-19 Patients

    This article has 10 authors:
    1. Krystyna Taylor
    2. Sayoni Das
    3. Matthew Pearson
    4. James Kozubek
    5. Marcin Pawlowski
    6. Claus Erik Jensen
    7. Zbigniew Skowron
    8. Gert Lykke Møller
    9. Mark Strivens
    10. Steve Gardner

    Reviewed by ScreenIT

    This article has 1 evaluationAppears in 1 listLatest version Latest activity
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