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GENETICS
LANGUAGE
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Mge37-015 | Unravelling the genetic basis of stuttering: GWAS meta-analysis highlights link with rare speech disorders |
| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.09.15.26363183v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.09.15.26363183v1.full-text |
| Search Similar: |
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| Search Authors: |
Victoria E. Jackson Jenna J. Shin Sarah Horton Jessica O. Boyce Else Eising Olivia van Reyk Richard Parker Daisy G.Y. Thompson-Lake Meghan Evans Janet Beilby Jennifer E. Below Dorret I. Boomsma Elinor Bridges Elizabeth C. Corfield Marie-Christine J. Franken Scott D. Gordon Alexandra Havdahl Simone P.C. Koenraads Shelly Jo Kraft Michelle Luciano Gunn-Helen Moen Hayley S. Mountford Agnieszka Musial Craig E. Pennell Hannah G. Polikowsky Rene Pool Valerie A. Rebattu Kaili Rimfeld Alyssa C. Scartozzi Beate St Pourcain Ingrid A. Szilagyi Stian B. Valand Kathryn Z. Viljoen Carol A. Wang Andrew J.O. Whitehouse Yvonne E. Wren Elsje van Bergen Nathan A. Gillespie Adam P. Vogel Ingrid E. Scheffer Michael S. Hildebrand Lynette G. Sadleir Frederique Liegeois Sheena Reilly Simon E. Fisher Nicholas G. Martin Angela T. Morgan Melanie Bahlo,
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CANCER
DIAGNOSTICS
GENETICS
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Mhe37-013 | Electronic Genome Mapping Enables High-Resolution Cytogenomic Profiling of Hematologic Malignancies: A Proof-of-Principle Study |
| Quote: |
Conclusions: In this pilot study on five hematological malignancy
specimens, EGM matched SOC and OGM across translocations, aneuploidies,
insertions and deletions, including BCR::ABL1 rearrangements in both
AML and CML, and added high-resolution breakpoint detail beyond
karyotype resolution. These results support larger studies across more
subtypes to establish EGM as a first-line genome-wide cytogenomic tool
for hematological malignancies. Keywords: Genome mapping, Electronic
genome mapping, hematological malignancies, structural variants, copy
number variants
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362883v2 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362883v2.full-text |
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Ashis K Mondal Vishakha Vashisht Yang Zhang Michael D Gallagher Shuk Shukor Michael Diaz Ashutosh Vashisht Alka Chaubey Ravindra Kolhe,
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GENETICS
IMMUNE
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Mim37-013 | Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework |
| Quote: |
Conclusion: The PIRD-GCEP framework provides validated gene-disease
classifications and identifies three distinct phenotypic clusters,
facilitating improved diagnosis while revealing genes requiring further
investigation to confirm their role in immune regulatory disorders.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362285v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362285v1.full-text |
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Benjamin D. Solomon Justyne Ross Eleanor P. Fensterle Rasha S. Soliman Michelle K. Paczosa Alison Brittain Elizabeth M. Forbes Olga F. Sarmento Ivana Stojkic Shifaa Alkotob Jahnavi Aluri Jorge Diogo Da Silva Ana Rita Soares Monica Sulit Anita Chandra Fabian Hauck Stephen Jolles Paul J. Maglione Harry Lesmana Craig D. Platt Markus G. Seidel Andrew L. Snow Kathleen E. Sullivan Troy R. Torgerson Tiphanie P. Vogel Klaus Warnatz Kejian Zhang Purvesh Khatri Forum Raval Stuart G. Tangye Roshini S. Abraham,
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COVID-19
GENETICS
IMMUNE
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Min37-003 | ACE2 Polymorphisms rs2285666 and rs147311723 Are Clinically Relevant Variants in SARS-CoV-2 and Mycobacterium tuberculosis Co-infection. |
| Quote: |
These findings suggest that ACE2 genetic variability is associated with
modulation of inflammatory responses and may contribute to
organ-specific dysfunction in COVID-19 and TB across different
populations. This highlights the potential role of host genetics in
shaping disease severity and underscore the need for larger studies to
validate these associations in diverse populations.
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| Abstract:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362837v1 |
| Full Text:
| https://www.medrxiv.org/content/10.64898/2026.09.11.26362837v1.full-text |
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Mary Ngongang Kameni Assam Assam Jean Paul Eric Berenger Tchoupe Noubissi Toyim Albert Ange Maxime Tchoutang Maloba Franklin Tsague Voufo Svetlana Carel Kameni Georgette Njila Fuh Roger Neba Severin Donald Kamdem Palmer Masumbe Netongo,
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GENETICS
IMMUNE
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Sd375-014 | Scientists Find an Immune false Alarm That May Drive Rapid Aging |
| Quote: |
Scientists have discovered that some severe genetic disorders linked to
rapid aging may be driven not just by damaged DNA, but by the bodys
overreaction to that damage. When broken DNA fragments leak into the
wrong part of a cell, an immune sensor called cGAS can mistake them for
signs of a viral infection, triggering chronic inflammation and even
interfering with DNA repair
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| Article:
| https://www.sciencedaily.com//releases/2026/09/260915232130.htm |
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