Skip navigation
  • Sciety Labs 🧪 (Experimental)
  • Search
Sciety application utilities

Genetic and Genomic Medicine

  • Subscribe to feed (RSS)

Showing page 1 of 23 pages of list content

  • Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations

    This article's authors
    1. Boris Noyvert
    2. A Mesut Erzurumluoglu
    3. Dmitriy Drichel
    4. Steffen Omland
    5. Till F M Andlauer
    6. Stefanie Mueller
    7. Lau Sennels
    8. Christian Becker
    9. Aleksandr Kantorovich
    10. Boris A Bartholdy
    11. Ingrid Brænne
    12. Julio Cesar Bolivar-Lopez
    13. Costas Mistrellides
    14. Gillian M Belbin
    15. Jeremiah H Li
    16. Joseph K Pickrell
    17. Jatin Arora
    18. Yao Hu
    19. Boehringer Ingelheim – Global Computational Biology and Digital Sciences
    20. Clive R Wood
    21. Jan M Kriegl
    22. Nikhil Podduturi
    23. Jan N Jensen
    24. Jan Stutzki
    25. Zhihao Ding
    This article has 7 evaluations Latest evaluation on Sep 17, 2026 Published on May 19, 2026
  • Estimating bone marrow adiposity from head MRI and identifying its genetic architecture

    This article's authors
    1. Tobias Kaufmann
    2. Pål Marius Bjørnstad
    3. Martin Falck
    4. Stener Nerland
    5. Kevin O'Connell
    6. Oleksandr Frei
    7. Ole A. Andreassen
    8. Lars T. Westlye
    9. Srdjan Djurovic
    10. Timothy Hughes
    This article has 10 evaluations Latest evaluation on Jul 23, 2026 Published on May 22, 2026
  • Design and validation of a clinical whole genome sequencing-based assay for patient screening in a large healthcare system

    This article's authors
    1. Josiah T. Wagner
    2. John T. Welle
    3. Isabelle A. Lucas Beckett
    4. Kate R. Emery
    5. Benjamin A. Cosgrove
    6. Krzysztof Olszewski
    7. Nick Wagner
    8. Tucker C. Bower
    9. Li Chi Yuan
    10. Eric M. Shull
    11. Kathleen Jade
    12. Jon Clemens
    13. Andrew T. Magis
    14. Mary B. Campbell
    15. Ora K. Gordon
    16. Carlo B. Bifulco
    17. Brian D. Piening
    This article has 1 evaluations Latest evaluation on May 6, 2026 Published on Jul 17, 2025
  • Adapting Clinical Chemistry Plasma as a Source for Liquid Biopsies

    This article's authors
    1. Spencer C. Ding
    2. Jingru Yu
    3. Tiepeng Liao
    4. Lauren S. Ahmann
    5. Yvette Y. Yao
    6. Chandler Ho
    7. Linlin Wang
    8. Benjamin A. Pinsky
    9. Wei Gu
    This article has 12 evaluations Latest evaluation on Apr 16, 2026 Published on Mar 31, 2026
  • Functional Effect Predictions For Ion Channel Missense Variants Using a Protein Language Model

    This article's authors
    1. Sean Gies
    2. Artoghrul Alishbayli
    3. Paul H.E. Tiesinga
    4. Marijn B. Martens
    This article has 1 evaluations Latest evaluation on Mar 2, 2026 Published on Oct 21, 2025
  • Interactions with polygenic background impact quantitative traits in the UK Biobank

    This article's authors
    1. Lino A. F. Ferreira
    2. Sile Hu
    3. Robert W. Davies
    4. Simon R. Myers
    This article has 4 evaluations Latest evaluation on Dec 4, 2025 Published on Dec 29, 2025
  • Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome

    This article's authors
    1. Tanja Nielsen
    2. Anaïs Kervadec
    3. Jeanne L. Theis
    4. Maria A. Missinato
    5. James Marchant
    6. Michaela Romero
    7. Katya Marchetti
    8. Aashna Lamba
    9. Xin-Xin I. Zeng
    10. Marie Berenguer
    11. Stanley M. Walls
    12. Analyne Schroeder
    13. Katja Birker
    14. Greg Duester
    15. Paul Grossfeld
    16. Timothy J. Nelson
    17. Timothy M. Olson
    18. Karen Ocorr
    19. Rolf Bodmer
    20. Georg Vogler
    21. Alexandre R. Colas
    This article has 7 evaluations Latest evaluation on Nov 28, 2025 Published on Nov 3, 2025
  • Genomic privacy risks in GWAS summary statistics

    This article's authors
    1. Ao Lan
    2. Yudi Pawitan
    3. Xia Shen
    This article has 4 evaluations Latest evaluation on Nov 18, 2025 Published on Sep 12, 2025
  • A titin missense variant drives atrial electrical remodeling and is associated with atrial fibrillation

    This article's authors
    1. Mahmud Arif Pavel
    2. Hanna Chen
    3. Michael Hill
    4. Arvind Sridhar
    5. Miles Barney
    6. Jaime DeSantiago
    7. Abhinaya Baskaran
    8. Asia Owais
    9. Shashank Sandu
    10. Faisal A. Darbar
    11. Aylin Ornelas-Loredo
    12. Bahaa Al-Azzam
    13. Brandon Chalazan
    14. Jalees Rehman
    15. Dawood Darbar
    This article has 9 evaluations Latest evaluation on Nov 11, 2025 Published on Nov 7, 2025
  • Monocyte-endothelial interactions as a targetable node in clonal hematopoiesis-mediated cardiovascular disease

    This article's authors
    1. Alyssa C. Parker
    2. J. Brett Heimlich
    3. Joseph C. Van Amburg
    4. Yash Pershad
    5. David A. Ong
    6. Nicole A. Mickels
    7. Laventa M. Obare
    8. Ketan J. Hoey
    9. Hannah K. Giannini
    10. Ayesha Ahmad
    11. Caitlyn Vlasschaert
    12. Tarak N. Nandi
    13. Ravi K. Madduri
    14. Samuel S. Bailin
    15. John R. Koethe
    16. Celestine N. Wanjalla
    17. Alexander G. Bick
    This article has 3 evaluations Latest evaluation on Oct 30, 2025 Published on Sep 2, 2025
Next
Stay updated. Get involved.
Subscribe to Mailing List
  • Blog
  • About Sciety
  • Contact
  • Follow us on Twitter
  • Follow us on Facebook
© 2022 eLife Sciences Publications Ltd. Legal information