@GenomicsEdi profile picture
One Health Genomics Edinburgh @GenomicsEdi

A community of University of Edinburgh researchers seeking genome knowledge for human, animal, plant and ecosystem health

Joined May 2021
  • Tweets 3,252
  • Following 346
  • Followers 1,150
545 Photos and videos
New Publication: Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for insulin resistance @EdinUni_IGC @EdinUniNeuro nature.com/articles/s41467-0…

Deep mutational scanning of the human insulin receptor ectodomain to inform precision therapy for...

Nature Communications - Mutations in the insulin receptor cause severe insulin resistance, but their functional impact is often unclear. Here, the authors map ~14,000 receptor variants, linking...

nature.com
1
4
346
New Publication: Organisation and dynamics of individual DNA segments in topologically complex genomes @EdinUni_IGC academic.oup.com/nar/article…

Organisation and dynamics of individual DNA segments in topologically complex genomes

Abstract. Capturing the physical organisation and dynamics of genomic regions is one of the major open challenges in biology. The kinetoplast DNA (kDNA) is

academic.oup.com
1
1
132
New Publication: Review: Assessing available genetic diversity estimates of rare breeds of livestock @roslininstitute @TheDickVet sciencedirect.com/science/ar…
49
New Publication: Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape jaw development @EdinUni_IGC @Hannah_K_Long @uttley_kirsty journals.biologists.com/dev/…

Neanderthal-derived variants increase SOX9 enhancer activity in craniofacial progenitors that shape...

Highlighted Article: Neanderthal-specific non-coding variants increase the activity of a human disease-associated craniofacial enhancer proposed to impact SOX9 expression in a pool of progenitor...

journals.biologists.com
1
65
New Publication: Genomics-led approach to drug testing in models of undifferentiated pleomorphic sarcoma @EdinUni_IGC febs.onlinelibrary.wiley.com…

FEBS Press

Genomic data from undifferentiated pleomorphic sarcoma patients and preclinical models were used to inform a targeted drug screen. Selected compounds were tested in 2D and 3D cultures of UPS cell...

febs.onlinelibrary.wiley.com
1
63
#GettingGenomeMe Genomics Researcher Profile Dr James Furniss is a Facility Manager at Roslin Institute and here he talks about his work in the Genomics Platform Core Facility @roslininstitute onehealthgenomics.ed.ac.uk/j…
48
New Publication: Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian randomization in the UK Biobank @EdinUniUsher @EdinUniImaging @EdinUni_IGC @EdinUniNeuro @WillCawthorn nature.com/articles/s41467-0…

Clinical implications of bone marrow adiposity identified by phenome-wide association and Mendelian...

Nature Communications - Bone marrow adipose tissue accounts for almost 10% of human fat mass, but its roles remain unclear. Here, Xu et al. identify more than 45 diseases linked to marrow adiposity...

nature.com
2
61
New Publication: Accurate prediction of gene deletion phenotypes with Flux Cone Learning @SBSatEd @CharlotteMerzb1 @doyarzunrod nature.com/articles/s41467-0…

Accurate prediction of gene deletion phenotypes with Flux Cone Learning

Nature Communications - Gene deletions alter cellular physiology in complex and poorly understood ways. Here, authors present a machine learning strategy to predict the impact of metabolic gene...

nature.com
57
New Publication: Semiparametric efficient estimation of small genetic effects in large-scale population cohorts @EdinUni_IRR @EdinUni_IGC @EdinUniMaths @AvaKhamseh academic.oup.com/biostatisti…

Semiparametric efficient estimation of small genetic effects in large-scale population cohorts

Summary. Population genetics seeks to quantify DNA variant associations with traits or diseases, as well as interactions among variants and with environmen

academic.oup.com
1
61
New Publication: The loss of microRNA-26b promotes aortic calcification through the regulation of cell-specific target genes @ColSciEng @EdinUni_IGC @caporalilab #singlecelltranscriptomics #aorticdisease #microRNAs academic.oup.com/cardiovascr…

The loss of microRNA-26b promotes aortic calcification through the regulation of cell-specific...

AbstractAims. Vascular calcification is the abnormal deposition of calcium phosphates within blood vessels. This condition is significantly associated with

academic.oup.com
1
100
New Publication: Limited overlap between genetic effects on disease susceptibility and disease survival @EdinUni_IGC nature.com/articles/s41588-0…

Limited overlap between genetic effects on disease susceptibility and disease survival

Nature Genetics - Systematic comparison of genome-wide association results for disease risk and disease-specific mortality for nine common diseases across seven biobanks finds limited overlap...

nature.com
1
48
New Publication: Structural variant landscape provides insights into genome organisation and domestication in European seabass @roslininstitute @TheDickVet bmcbiol.biomedcentral.com/ar…

Structural variant landscape provides insights into genome organisation and domestication in...

BMC Biology - Structural variants (SVs) are genetic polymorphisms including deletions, insertions, inversions, and duplications, with potential to influence traits through impacts on gene function...

link.springer.com
48
New publication: A methylome-wide association study of major depression with out-of-sample case–control classification and trans-ancestry comparison @EdinUni_IGC @roslininstitute @EdinUniLBC nature.com/articles/s44220-0…

A methylome-wide association study of major depression with out-of-sample case–control classifica...

Nature Mental Health - The authors report a meta-analysis of methylome-wide association studies, identifying 15 significant CpG sites linked to major depression, revealing associations with...

nature.com
1
1
136
New Publication: Integrating cross-sample and cross-modal data for spatial transcriptomics and metabolomics with SpatialMETA @BMTOeduni nature.com/articles/s41467-0…

Integrating cross-sample and cross-modal data for spatial transcriptomics and metabolomics with...

Nature Communications - Simultaneous profiling of spatial transcriptomics (ST) and metabolomics (SM) offers a novel way to decode tissue microenvironment heterogeneity. Here, the authors present...

nature.com
44
New Publication: The commercial roots of the genomic commons @UoEresearchSSPS journals.sagepub.com/doi/10.…

The commercial roots of the genomic commons - Steve Sturdy, 2025

Accounts of the origins of the genomic commons typically focus on the development of public repositories and data-sharing agreements. This article tells a diffe...

journals.sagepub.com
47
Today is One Health Day! #OneHealth Find out more from the One Health Commission onehealthcommission.org/en/e…
56
New Publication: Genome-Wide Aggregated Trans Effects Analysis for Circulating Proteins Indicates a Key Role of Immune Checkpoints in Type 1 Diabetes @EdinUni_IGC @EdinUniUsher diabetesjournals.org/diabete…

Genome-Wide Aggregated Trans Effects Analysis for Circulating Proteins Indicates a Key Role of...

The “omnigenic” hypothesis postulates that polygenic effects of common variants on typical complex traits coalesce via trans effects on the expression of a

diabetesjournals.org
1
1
124
Edinburgh Next Generation of Genomics Symposium #ENGoGS2025 Join us on 17th November at the Playfair Library to hear from Early Career Researchers working across disciplines in genetics and genomics. Link below for details and registration. onehealthgenomics.ed.ac.uk/E…
1
1
228
New Publication: Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery @SchoolofPPLS @hayley_s_m nature.com/articles/s41398-0…

Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves...

Translational Psychiatry - Multivariate genome-wide association analysis of dyslexia and quantitative reading skill improves gene discovery

nature.com
74
New Publication: Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins @EdinUni_IGC @jmarshlab journals.plos.org/ploscompbi…

Assessing variant effect predictors and disease mechanisms in intrinsically disordered proteins

Author summary Some parts of proteins, known as intrinsically disordered regions, do not fold into fixed shapes. Instead, they stay flexible and play key roles in controlling how cells work, often by...

journals.plos.org
1
2
133
Load more