ASHG 2026 · Tier 2–3 Academic

University of Exeter at ASHG 2026

Exeter, UK

University of Exeter at ASHG 2026 in Montréal: 11 presentations (10 posters, 1 platform talk); 6 research groups.

11
presentations on the program
6
research groups identified
2
Reviewers’ Choice abstracts

Explore everyone at ASHG 2026 →

OrganizationASHG 2026 Attendance
University of Exeter
Exeter, UK
4 PhD Students · 2 Faculty · 2 Postdocs
Translational Genomicssites.exeter.ac.uk/translationalgenomics
Dry lab~10 people
Uses large-scale genomic sequencing, long-read RNA sequencing and circulating proteomic data. Improves diagnosis and informs screening for rare genetic diseases.
40 papers since 2024
Nonlocal phase-change metaoptics for reconfigurable nonvolatile image processing
Light Science & Applications, 2025
The potential of multidimensional photonic computing
Nature Reviews Physics, 2025
Probabilistic photonic computing with chaotic light
Nature Communications, 2024
Source: OpenAlex author A5002680380
Funded by Wellcome, Wellcome +3 more
Wellcome, PARADIGM · active
“PARADIGM: Primary Annotated Resources to Advance Discovery In Genomic Medicine (Wellcome)”
Wellcome, Deciphering Developmental Disorders Study · active
“DDD: Deciphering Developmental Disorders Study (Wellcome)”
MRC, Newborn screening with whole-genome sequencing using large population cohorts · active
“Evaluating scientific and ethical approaches to newborn screening with whole-genome sequencing using large population cohorts (MRC)”
+2 more on the lab page
Source: lab pages
9 platforms and techniques
Analyzes
large-scale genomic sequencing datasets, long-read RNA sequencing, whole genome sequencing, circulating proteomic data
Techniques
aggregate variant burden testing, protein-truncating variant effect prediction, penetrance analysis, gain- versus loss-of-function analysis, rare variant interpretation
Source: lab pages
No openings posted
Talk
Fri Oct 23
11:00 am
Comprehensive characterisation of non-coding and coding effects of de novo variants in a large-scale rare disease case-control cohort
Resolving Rare Disease: Transcriptional, Functional, and Population-Scale Approaches
Variant interpretationRare variantsIntellectual and developmental disabilityMendelian disorder
Poster
Fri Oct 23
2:30 pm
AlphaGenome scores significantly improve discovery rate and interpretability of rare non-coding genotype-phenotype associations
Statistical Genetics and Genetic Epidemiology
Collaborators: Google DeepMind
Artificial intelligenceComplex diseasesComplex traitsComputational tools
Poster
Fri Oct 23
2:30 pm
Gene-disease dyad studies in population cohorts: implications for genomic newborn screening
Molecular Effects of Genetic Variation
Electronic health recordsGenetic epidemiologyLarge-scale biobanksPhenotype
AGE @ Exetersites.exeter.ac.uk/age
Dry lab~26 people
Uses UK Clinical Practice Research Datalink, UK Biobank, MRI and medical-record data to study ageing and multimorbidity. Research targets cardiovascular frailty, pharmacogenetics and haemochromatosis.
19 papers since 2024
A systematic analysis of the contribution of genetics to multimorbidity and comparisons with primary care data
EBioMedicine, 2025
Prevalence of Frailty in European Emergency Departments (FEED): an international flash mob study
European Geriatric Medicine, 2024
Service provision for Frailty in European Emergency Departments (FEED): a survey of operational characteristics
Scandinavian Journal of Trauma Resuscitation and Emergency Medicine, 2024
Source: OpenAlex author A5001583678
Funded by NIHR, The Dunhill Trust +3 more
NIHR, Exeter Biomedical Research Centre · active
“Funded by the NIHR Exeter Biomedical Research Centre”
The Dunhill Trust · active
“funded by the NIHR and The Dunhill Trust”
NIHR, School for Primary Care Research · active
“funded by the NIHR School for Primary Care Research”
+2 more on the lab page
Source: lab pages
6 platforms and techniques
Analyzes
UK Clinical Practice Research Datalink, UK Biobank, UK Biobank MRI data
Techniques
Pharmacogenetics, Causal inference, MRI-based iron-deposition estimation
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Identifying genetic variants causal for multiple long-term conditions: informing opportunities for intervention and prevention
Complex Traits and Polygenic Disorders
Collaborators: University of Leicester, University of Geneva
Complex diseasesGenotype-phenotype correlationsGenome-wide association studyStatistical genetics
Cancer diagnosis and detectionmedicine.exeter.ac.uk/health-community/research/apex/research/themes/cancer_diagnosis_and_detection
Dry lab~3 people
Studies cancer detection using electronic health records, genetic information and multi-cancer early detection tests. Focuses on symptomatic and asymptomatic populations in primary care.
Funded by GRAIL Bio UK Ltd., Gillings Family Foundation +10 more
GRAIL Bio UK Ltd., NHS-Galleri · active
“NHS-Galleri | GRAIL Bio UK Ltd.”
Gillings Family Foundation, ERICA · active
“ERICA | Gillings Family Foundation”
CRUK, NIHR, EPSRC, HDR UK & ADR UK, Cancer Data Driven Detection programme · active
“The Cancer Data Driven Detection programme is jointly supported by CRUK, NIHR, EPSRC, HDR UK & ADR UK”
+9 more on the lab page
Source: lab pages
12 platforms and techniques
Analyzes
Multi-cancer early detection (MCED) test, Cell-free DNA-based MCED test, Routine electronic health records, Faecal immunochemical testing, PSA testing, Non-contrast computed tomography
Techniques
Qualitative, quantitative and mixed-methods research, Randomised controlled trials, Cohort studies, Machine learning and AI, Genetic risk scores, Systematic reviews
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
A Multiomic Approach to Improve Prostate Cancer Risk Stratification in UK Biobank
Cancer
Collaborators: University of Manchester
CancerPolygenic risk scoreProteomicsMulti-omics
Genetics and Genomicsexeterbrc.nihr.ac.uk/research/genetics-and-genomics
Wet + dry lab~11 people
Uses whole-genome sequencing, long-read sequencing and biobank/EHR data. Targets rare-disease diagnosis, cancer predisposition and tailored treatment with NHS genomic partners.
Funded by NIHR Exeter BRC, Wellcome Discovery +1 more
NIHR Exeter BRC, Mid-Career Fellowship · 2025
“In 2025, Kelly began an NIHR Exeter BRC Mid-Career Fellowship, combining research and NHS practice.”
Wellcome Discovery, PARADIGM Project · active
“Stuart is now pursuing his interests in the genetics of rare disease as part of the Wellcome Discovery funded PARADIGM Project”
BRC, BRC-funded prostate-cancer project · active
“Harry leads a BRC funded project in predicting prostate cancer”
Source: lab pages
8 platforms and techniques
Analyzes
whole-genome sequencing, long-read sequencing
Techniques
statistical pipelines, genetic risk scores, variant filtering and interpretation, in silico protein structural analysis, bioinformatic approaches, qualitative and quantitative analysis
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Defining the genetic architecture of chronotype using whole-genome sequencing and single-cell circadian transcriptomics
Complex Traits and Polygenic Disorders
Collaborators: University of Oxford, Brigham and Women's Hospital
Complex traitsLarge-scale biobanksRare variantsSingle-cell
Reproductive Genomics Groupsites.exeter.ac.uk/reprogenomics/about-us
Wet + dry lab~10 people
Uses human population genomics, UK Biobank and genetic data linked to primary-care records. Studies reproductive ageing, menopause, infertility and later-life health.
20 papers since 2024
Genetic links between ovarian ageing, cancer risk and de novo mutation rates
Nature, 2024
Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Nature Genetics, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts
Nature Genetics, 2024
Source: OpenAlex author A5045705929
Funded by Wellcome Trust, MRC +1 more
Wellcome Trust, Discovery Award · 6 years from 1st September 2024
“Wellcome Trust Discovery Award for 6 years from 1st September 2024, £5.6M”
MRC · 3 years from 1st February 2024
“MRC funding for 3 years from 1st February 2024, £800k”
UK Research and Innovation (UKRI), Horizon Europe funding guarantee · 5 years from 1st January 2024
“Funded by UK Research and Innovation (UKRI) under the UK government’s Horizon Europe funding guarantee”
Source: lab pages
11 platforms and techniques
Works with
UK Biobank, Primary-care health records linked to genetic data, Electronic healthcare records, Large-scale CRISPR screens
Techniques
Human population genomics, Animal models, Cellular phenotyping, Organoid models, CRISPR screens, Genetic epidemiology, Genomewide analyses
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Genetic proxy for lifetime estradiol exposure identifies novel signals with combined effects on menarche and menopause timing
Prenatal, Perinatal, Reproductive, and Developmental Genetics
Collaborators: University of Bristol, Royal Devon University Healthcare NHS Foundation Trust
Reproductive geneticsGenome-wide association studyMendelian randomizationWomen's health
Genetics of Complex Traits Group
Works in population genetics.
Poster
Fri Oct 23
2:30 pm
A systematic map of non-coding Kozak variants altering translational efficiency reveals numerous effects on protein abundance and complex trait variation
Complex Traits and Polygenic Disorders
Complex traitsGene regulationGenetic variationPhenome-wide association
3 more presenters — research group not yet identified

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