University of Oxford at ASHG 2026

Oct 20–24, 2026 Montréal, Canada ~7.5k attendees Website

University of Oxford brings 30 presentations from 20 research groups to ASHG 2026 in Montréal. Its program centres on rare disease, cancer and population genetics, with computational and therapeutic work. Luo Lab @ Oxford brings Mexico-specific HLA analysis, Cancer Epidemiology Unit (CEU) brings biomarkers preceding prostate cancer diagnosis by over ten years, and Whiffin Group: Computational Rare Disease Genomics brings a ReNU syndrome splicing signature.

OrganizationASHG 2026 Attendance
9 PhD Students · 9 Postdocs · 5 PIs · 4 Staff Scientists
Luo Lab @ Oxfordndorms.ox.ac.uk/research/research-groups/luo-group-statistical-genomics-and-computational-immunology
Dry lab~10 people
Analyzes UK Biobank, China Kadoorie Biobank and Mexico City Prospective Study data with transcriptomics, proteomics and TCR repertoires. Connects genetic variation to immune-related disease mechanisms.
69 papers since 2024
›
Nuclear Structure of Dripline Nuclei Elucidated through Precision Mass Measurements of Si 23 , P 26 , S 27 , 28 , and Ar 31
Physical Review Letters, 2024
Metabolic disruption exacerbates intestinal damage during sleep deprivation by abolishing HIF1α-mediated repair
Cell Reports, 2024
Paired analysis of host and pathogen genomes identifies determinants of human tuberculosis
Nature Communications, 2024
Source: OpenAlex author A5054716145
Funded by Kennedy Trust for Rheumatology Research
›
Kennedy Trust for Rheumatology Research, Senior Research Fellow in Data Science · active
“I am a Kennedy Trust for Rheumatology Research (KTRR) Senior Research Fellow in Data Science.”
Source: lab pages
10 platforms and techniques
›
Analyzes
T cell receptor (TCR) repertoires, Transcriptomics, Proteomics
Techniques
HLA reference panel construction, HLA imputation, HLA association, Covariate-adjusted LD score regression, Multi-omics integration, Single-cell eQTL mapping, Statistical modelling
Source: lab pages
Currently hiring
›
“We are hiring!”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
A Mexico-specific HLA imputation panel enables high-resolution association and fine-mapping studies
Collaborators: Universidad Nacional Autónoma de México, Tecnológico de Monterrey
Complex diseasesDiabetesExome/genome sequencingLarge-scale biobanks
Poster
Wed Oct 21
2:30 pm
Direction-aware rank-based integration identifies convergent disease mechanisms across omics
Collaborators: Chinese Academy of Medical Sciences & Peking Union Medical College, Broad Institute
Multi-omicsMethodologyComputational toolsCardiovascular system
Poster
Thu Oct 22
4:15 pm
Multi-ancestry MHC-pQTL mapping reveals disease-linked HLA protein networks and shared genetic architecture
Collaborators: McGill University
Statistical geneticsProteomicsMulti-omicsGenomics
Poster
Fri Oct 23
2:30 pm
★ Reviewers’ Choice
scTAPAS: inferring SNPs and HLA alleles from scRNA-seq to enable single-cell genetic association studies
Collaborators: University of Bristol
Computational toolsGene regulationImmune systemSingle-cell
Cancer Epidemiology Unit (CEU)ndph.ox.ac.uk/research/research-groups/cancer-epidemiology-unit-ceu
Dry lab
Studies cancer with prospective cohorts, proteomics, metabolomics, genomics and electronic-health-record linkage. Focuses on prevention, risk, screening and disease mechanisms.
28 papers since 2024
›
Diet-wide analyses for risk of colorectal cancer: prospective study of 12,251 incident cases among 542,778 women in the UK
Nature Communications, 2025
Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank
Nature Communications, 2024
Alcohol intake and endogenous sex hormones in women: Meta‐analysis of cohort studies and Mendelian randomization
Cancer, 2024
Source: OpenAlex author A5055377175
Funded by Cancer Research UK, Medical Research Council +3 more
›
Cancer Research UK · active
“Funding: Cancer Research UK, Medical Research Council”
Medical Research Council · active
“Funding: Cancer Research UK, Medical Research Council”
UKRI, Future Leaders Fellowship · active
“Dr Kezia Gaitskell is a Senior Clinical Research Fellow and UKRI Future Leaders Fellow in the Cancer Epidemiology Unit.”
+2 more on the lab page
Source: lab pages
10 platforms and techniques
›
Analyzes
Proteomics, Metabolomics, Genomics, Electronic health record linkage, Digital histopathology slides
Techniques
Polygenic risk scores, Histopathology-epidemiology integration, Screening-programme analysis, Causal inference, Machine learning
Source: lab pages
No openings posted
Talk
Wed Oct 21
2:03 pm
Poster
Wed Oct 21
2:30 pm
Rare CNV architectures in overall and lethal breast and prostate cancer across 435,527 genomes
CancerCopy number/structural variationExome/genome sequencingGenetic epidemiology
Poster
Thu Oct 22
4:15 pm
★ Reviewers’ Choice
Circulating immune and cancer driver gene biomarkers precede prostate cancer diagnosis by over ten years
Collaborators: Biogipuzkoa Health Research Institute, Basque Government +6 more
CancerExome/genome sequencingGenetic epidemiologyGenomics
Statistical Genetics and Epidemiologystats.ox.ac.uk/statgen-epi
Dry lab~17 people
Develops statistical methods for genetic data and single-cell omics. Studies disease loci, population history and infectious-disease transmission with Oxford institutes and WHO.
Funded by NIHR
›
NIHR, Health Protection Research Unit in Emerging and Zoonotic Infections · active
“We are part of the NIHR-funded Health Protection Research Unit in Emerging and Zoonotic Infections”
Source: lab pages
4 platforms and techniques
›
Techniques
Population genetics and genealogical reconstruction, Association mapping, Single-cell omics, Outbreak modelling
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Automatic differentiation for flexible Bayesian polygenic score inference
Artificial intelligenceComplex traitsMachine learningPolygenic risk score
Poster
Fri Oct 23
2:30 pm
Unravelling the latent dimensionality of the human phenome
Genotype-phenotype correlationsComplex traitsMethodologyLarge-scale biobanks
Wray Grouppsych.ox.ac.uk/team/naomi-wray
Dry lab~3 people
Develops statistical and computational methods for Danish and international registers and biobanks. Studies risk factors and consequences across psychiatric and common diseases.
130 papers since 2024
›
Mapping the genetic landscape across 14 psychiatric disorders
Nature, 2025
Polygenic and developmental profiles of autism differ by age at diagnosis
Nature, 2025
The Psychiatric Genomics Consortium: discoveries and directions
The Lancet Psychiatry, 2025
Source: OpenAlex author A5064741640
Funded by Lundbeck Foundation, Novo Nordisk Foundation +3 more
›
NHMRC, Synergy: Rhythms and blues · 2023-2027
“NHMRC Synergy (2023-2027) "Rhythms and blues"”
Lundbeck Foundation, Pioneer Centre for SMARTbiomed · active
“a total donation of DKK 250 million from the Lundbeck Foundation”
Novo Nordisk Foundation, Pioneer Centre for SMARTbiomed · active
“the Novo Nordisk Foundation”
+2 more on the lab page
Source: lab pages
10 platforms and techniques
›
Analyzes
GWAS data, GWAS summary statistics
Techniques
Bayesian modelling, Polygenic risk scores, Genetic fine-mapping, Markov chain Monte Carlo, SBayesS and LDpred2-auto, SBayesRC, Linkage disequilibrium regression, Quantitative genetics
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Decoy sequences: hidden components of the reference genome influencing human trait inference
Collaborators: Broad Institute, University of Toronto
BioinformaticsChromosomal structure/functionComputational toolsCopy number/structural variation
Poster
Thu Oct 22
4:15 pm
When polygenic risk acts: developmental-stage-resolved PGS link prefrontal cortex single-cell genetic architecture to age at onset of schizophrenia and depression
Collaborators: Aarhus University, University of Edinburgh +1 more
Statistical geneticsSingle-cellMulti-omicsPsychiatric genetics
Sanders Groupidrm.ox.ac.uk/people/research-groups/sanders-group
Dry lab~18 people
Uses whole-exome and whole-genome sequencing plus single-cell ATAC-seq and RNA-seq data from postmortem brain. Studies neurodevelopmental disorders and develops antisense oligonucleotide and CRISPR-based therapies.
66 papers since 2024
›
Single-cell genomics and regulatory networks for 388 human brains
Science, 2024
Single-cell multi-cohort dissection of the schizophrenia transcriptome
Science, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature, 2024
Source: OpenAlex author A5049906252
Funded by MRC CoRE in Therapeutic Genomics
›
MRC CoRE in Therapeutic Genomics · active
“Head of Operations, MRC CoRE in Therapeutic Genomics Sanders Group”
Source: lab pages
9 platforms and techniques
›
Analyzes
Whole-exome sequencing, Whole-genome sequencing, ATAC-seq, RNA-seq
Techniques
Bioinformatics, Postmortem human brain samples, Antisense oligonucleotides, CRISPR-based genome editing, Machine learning
Source: lab pages
Currently hiring
›
“We welcome applications from motivated and enthusiastic students who want to join our team.”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
★ Reviewers’ Choice
Convergent RFX3-dependent regulatory programs in language cortex across genetically heterogeneous autism
AutismGene regulationMulti-omicsNeurodevelopmental
Whiffin Group: Computational Rare Disease Genomicswhiffinlab.org
Dry lab~11 people
Uses code on gnomAD, UK Biobank, Genomics England and ribo-seq data. Builds tools for rare-disease diagnosis and therapeutic target discovery.
38 papers since 2024
›
Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption
Nature Genetics, 2025
Author Correction: A genomic mutational constraint map using variation in 76,156 human genomes
Nature, 2024
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
Nature, 2024
Source: OpenAlex author A5080840846
Funded by Wellcome, Medical Research Council (MRC) +2 more
›
Wellcome, Career Development Award · active
“Nicky is an Associate Professor and Wellcome Career Development Award Fellow”
Medical Research Council (MRC), MRC Centre of Research Excellence (CoRE) in Therapeutic Genomics · active
“We are also part of the MRC Centre of Research Excellence (CoRE) in Therapeutic Genomics”
Lister Institute, Summer undergraduate projects · active
“We often host undergraduate students for 6 to 10 week projects over the summer holidays, funded by the Lister Institute.”
+1 more on the lab page
Source: lab pages
6 platforms and techniques
›
Analyzes
Ribosome profiling (ribo-seq)
Techniques
Non-coding variant annotation, Saturation genome editing, Population-cohort analysis, Rare-disease case variant analysis, Clinical interpretation of non-coding variants
Source: lab pages
Currently hiring
›
“We are currently recruiting for the following positions:”
Source: lab positions page
Poster
Wed Oct 21
2:30 pm
A cross-cohort splicing signature enables quantitative biomarker development for ReNU syndrome
Collaborators: Institut du Thorax, University of California, San Francisco +1 more
Alternative splicingVariant interpretationPrecision medicineNeurodevelopmental
Band Groupchg.ox.ac.uk/…
Wet + dry lab~7 people
Studies host and pathogen genomics using long-read sequencing plus experimental and computational approaches. Investigates malaria interactions, structural variation and infection outcomes.
22 papers since 2024
›
A disease-specific convergence of host and Epstein–Barr virus genetics in multiple sclerosis
Proceedings of the National Academy of Sciences, 2025
Novel risk loci in LGI1-antibody encephalitis: genome-wide association study discovery and validation cohorts
Brain, 2024
An accurate genetic colocalization method for the HLA locus
medRxiv, 2024
Source: OpenAlex author A5082541653
5 platforms and techniques
›
Techniques
long-read sequencing, genome assembly, structural variant resolution, genetic association testing, statistical genetics
Source: lab pages
No funding stated · No openings posted
China Kadoorie Biobank (CKB)ctsu.ox.ac.uk/research/china-kadoorie-biobank
~3 people
Contains questionnaire, physical-measurement and blood-sample data from 510,000 Chinese adults, with registry and health-insurance follow-up. Investigates genetic and environmental causes of chronic disease.
Funded by Kadoorie Charitable Foundation, Wellcome +5 more
›
Wellcome, long-term continuation · active
“The long-term continuation of the study is supported by Wellcome”
Chinese Natural Science Foundation · active
“with further support in China from the Chinese Natural Science Foundation”
Chinese Ministry of Science and Technology · active
“and Chinese Ministry of Science and Technology”
+4 more on the lab page
Source: lab pages
5 platforms and techniques
›
Techniques
Questionnaire data collection, Physical measurements, Blood-sample collection and storage, Registry and health-insurance database linkage, Prospective cohort follow-up
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Genome-wide analysis of intracerebral haemorrhage in Chinese adults identifies aldosterone as a major risk factor
Collaborators: The University of Osaka, Kyoto University +2 more
Cardiovascular systemComplex diseasesGenetic epidemiologyGenome-wide association study
China Kadoorie Biobank (CKB) research Groupctsu.ox.ac.uk/research/china-kadoorie-biobank
~3 people
Contains questionnaire, physical-measurement and blood-sample data from 510,000 Chinese adults, with registry and health-insurance follow-up. Investigates genetic and environmental causes of chronic disease.
Funded by Kadoorie Charitable Foundation, Wellcome +5 more
›
Wellcome, long-term continuation · active
“The long-term continuation of the study is supported by Wellcome”
Chinese Natural Science Foundation · active
“with further support in China from the Chinese Natural Science Foundation”
Chinese Ministry of Science and Technology · active
“and Chinese Ministry of Science and Technology”
+4 more on the lab page
Source: lab pages
5 platforms and techniques
›
Techniques
Questionnaire data collection, Physical measurements, Blood-sample collection and storage, Registry and health-insurance database linkage, Prospective cohort follow-up
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Proteome-wide genetic analyses identify ASGR1 as a potential mediator of smoking on ischaemic heart disease
Collaborators: Health Data Research UK
Mendelian randomizationProteomicsGenome-wide association studyCardiovascular system
Health Data Science Centre for Doctoral Training (HDS CDT)bdi.ox.ac.uk/study/health-data-science/health-science-students
Dry lab
Analyzes UK Biobank clinical-assessment, imaging, sensor and genotyping data. Trains researchers in statistics, machine learning and data management for health research.
Funded by EPSRC
›
EPSRC, Centre for Doctoral Training in Health Data Science · 2018-23
“The Engineering and Physical Sciences Research Council (EPSRC) has funded a new Centre for Doctoral Training (CDT) in Health Data Science”
Source: lab pages
5 platforms and techniques
›
Analyzes
UK Biobank
Techniques
Statistics, Machine learning, Data management, Responsible research and innovation
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Genome-wide CNV association analysis in 94,730 Chinese adults identifies loci influencing cardiometabolic and anthropometric traits
Copy number/structural variationGenome-wide association studyComplex traitsLarge-scale biobanks
Medical Image Analysis and Machine Learningbdi.ox.ac.uk/Team/bartek-papiez
Dry lab
Develops machine-learning and image-analysis methods for 3D ultrasound, radiographs, MRI and patient records. Applications include disease monitoring, therapeutic-target discovery and cancer radiogenomics.
Funded by Health Data Research UK, Medical Research Council +1 more
›
Health Data Research UK, Senior Fellowship in Population Health · from 2021
“extended in Senior Fellowship in Population Health (from 2021)”
Medical Research Council, AIRIaL · three-year project
“has been awarded £650,000 by the Medical Research Council (MRC) as part of a three-year project called AIRIaL.”
NIHR, Oxford Biomedical Research Centre
“The work was supported by the NIHR Oxford Biomedical Research Centre.”
Source: lab pages
10 platforms and techniques
›
Analyzes
3D ultrasound (3D US), Radiographs (X-ray imaging), Colour fundus images, Molecular imaging probes
Techniques
Image segmentation, Image registration, Natural language processing, Deep learning, Foundation models, Radiogenomics
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Large-scale GWAS of blood pressure traits in South Asians from the BELIEVE study
Collaborators: University of Cambridge
Cardiovascular systemComplex traitsEpidemiologyGenetic variation
Mentzer Group: Infection Immunogeneticschg.ox.ac.uk/research/research-groups/mentzer-hill-group
Dry lab~7 people
Analyzes human genetics, large-scale cohorts and multiplexed antibody profiles. Uses UK Biobank and infectious-disease cohorts to study susceptibility, vaccine responses and severe outcomes.
66 papers since 2024
›
Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
Nature Immunology, 2024
Immunomodulatory therapy in children with paediatric inflammatory multisystem syndrome temporally associated with SARS-CoV-2 (PIMS-TS, MIS-C; RECOVERY): a randomised, controlled, open-label, platform trial
The Lancet Child & Adolescent Health, 2024
A structure-function analysis shows SARS-CoV-2 BA.2.86 balances antibody escape and ACE2 affinity
Cell Reports Medicine, 2024
Source: OpenAlex author A5042879556
Funded by National Institute for Health and Care Research (NIHR)
›
National Institute for Health and Care Research (NIHR), NIHR Oxford Senior Research Fellowship · 2026
“has been awarded a prestigious NIHR Oxford Senior Research Fellowship for 2026”
Source: lab pages
8 platforms and techniques
›
Analyzes
20-agent Multiplex Serology platform, Multiplexed antibody profiling
Techniques
Human genetics and genomics, Multiplexed antibody profiling, Population substructure analysis, Biochemical assays, Complex clinical phenotyping, Transcriptomics
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Genetic variation impacting SARS-CoV-2 vaccine immunogenicity: a UK Biobank study
Collaborators: McGill University, McGill University Health Centre +3 more
BioinformaticsCOVID-19Genome-wide association studyLarge-scale biobanks
Prostate cancerceu.ox.ac.uk/research/prostate-cancer
Dry lab~7 people
Analyzes proteins in blood and tumour tissue using UK Biobank, EPIC and the Multiethnic Cohort Study. Identifies signals linked to aggressive prostate cancer.
67 papers since 2024
›
Amount and intensity of daily total physical activity, step count and risk of incident cancer in the UK Biobank
British Journal of Sports Medicine, 2025
Identifying proteomic risk factors for cancer using prospective and exome analyses of 1463 circulating proteins and risk of 19 cancers in the UK Biobank
Nature Communications, 2024
Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis
EBioMedicine, 2024
Source: OpenAlex author A5031594786
Funded by Cancer Research UK, World Cancer Research Fund
›
Cancer Research UK, Prostate Cancer Aetiology and Prevention (PCAP) · active
“It is funded by Cancer Research UK.”
World Cancer Research Fund · 2014
“thanks to a major award from the World Cancer Research Fund”
Source: lab pages
5 platforms and techniques
›
Techniques
High-throughput biomarker and metabolic profiling, Tumour phenotyping, Protein analysis, Data science, Metabolite measurement
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Genetically Predicted PARP1 Levels Are Associated with Increased Prostate Cancer Risk
Collaborators: University of Southern California, Imperial College London +16 more
CancerPopulation geneticsPolygenic risk scoreProteomics
Taylor group: Translational Genomicschg.ox.ac.uk/research/research-groups/taylor-group-1
~8 people
Analyzes Illumina, Oxford Nanopore and PacBio genomic data, including long-read sequencing. Translates genetic findings into NHS clinical practice through the Oxford Biomedical Research Centre.
18 papers since 2024
›
Consensus recommendations on multiple sclerosis management in Australia and New Zealand: part 2
The Medical Journal of Australia, 2025
Phylogenomics and the rise of the angiosperms
Nature, 2024
Century-old chromatin architecture revealed in formalin-fixed vertebrates
Nature Communications, 2024
Source: OpenAlex author A5014680668
Funded by National Institute of Health Research
›
National Institute of Health Research, Oxford Biomedical Research Centre – Genomic Medicine Theme · active
“one of several such centres in the UK funded by the National Institute of Health Research”
Source: lab pages
7 platforms and techniques
›
Analyzes
Illumina, Oxford Nanopore Technologies (ONT), PacBio
Techniques
next-generation sequencing, long-read sequencing, structural variant detection, whole-exome sequencing
Source: lab pages
No openings posted
Poster
Wed Oct 21
2:30 pm
Identifying Patients and Variants for Treatment with Advanced Nucleic Acid Therapeutics: the UK’s Rare Therapies Launch Pad
Collaborators: Genomics England, University College London
Rare variantsBrain/nervous systemMolecular therapeuticsPrecision medicine
Wearables Groupbdi.ox.ac.uk/research/wearables-group
Dry lab~15 people
Develops reproducible methods for wrist-worn accelerometer, ECG, photoplethysmogram and camera data. Uses UK Biobank and China Kadoorie Biobank to study physical activity, sleep and disease.
66 papers since 2024
›
Integrating the environmental and genetic architectures of aging and mortality
Nature Medicine, 2025
Self-supervised learning for human activity recognition using 700,000 person-days of wearable data
npj Digital Medicine, 2024
Digital health technologies and machine learning augment patient reported outcomes to remotely characterise rheumatoid arthritis
npj Digital Medicine, 2024
Source: OpenAlex author A5083886220
Funded by Wellcome, Boehringer Ingelheim +7 more
›
Wellcome · active
“Wellcome”
Boehringer Ingelheim · active
“Boehringer Ingelheim”
Swiss Re · active
“Swiss Re”
+6 more on the lab page
Source: lab pages
7 platforms and techniques
›
Analyzes
Wrist-worn accelerometers, Wearable cameras, Electrocardiograms, Photoplethysmograms
Techniques
Self-supervised machine learning, Time-series phenotyping, Compositional data analysis
Source: lab pages
No openings posted
Poster
Thu Oct 22
4:15 pm
Sleep duration polygenic risk score is associated with health outcomes across the phenome
Complex traitsPhenome-wide associationPolygenic risk score
Wood Groupidrm.ox.ac.uk/people/research-groups/wood-group
Wet lab~18 people
Develops RNA therapeutics, antisense oligonucleotides and extracellular-vesicle delivery technologies. Applies them to rare neuromuscular diseases including Duchenne muscular dystrophy, spinal muscular atrophy and myotonic dystrophy.
49 papers since 2024
›
Engineering of extracellular vesicles for efficient intracellular delivery of multimodal therapeutics including genome editors
Nature Communications, 2025
AAV microdystrophin gene replacement therapy for Duchenne muscular dystrophy: progress and prospects
Gene Therapy, 2025
Scalable purification of extracellular vesicles with high yield and purity using multimodal flowthrough chromatography
Journal of Extracellular Biology, 2024
Source: OpenAlex author A5089279578
Funded by Funds for Cures, Muscular Dystrophy UK +13 more
›
Funds for Cures · active
“Funds for Cures”
Muscular Dystrophy UK · active
“Muscular Dystrophy UK”
Isogenix · active
“Isogenix”
+12 more on the lab page
Source: lab pages
11 platforms and techniques
›
Runs
antisense oligonucleotides, gene-silencing RNAi therapies, gene-editing therapies, cell-targeting peptides, antibody conjugates, exosome nanotechnology
Techniques
targeted intracellular delivery, extracellular-vesicle engineering, peptide/protein delivery technologies, RNAi gene silencing, exosome therapeutics
Source: lab pages
No openings posted
Poster
Fri Oct 23
2:30 pm
Machine learning yields dramatic improvement on novel AAV variant effect prediction task
Collaborators: Technical University of Munich
Deep learningGene therapyGenome editing/CRISPRMachine learning
Lauffer Lablaufferlab.org
Wet + dry lab~2 people
Develops computational pipelines and wet-lab strategies for genetic variants, antisense oligonucleotides, gene editing and gene replacement. Targets rare genetic disease therapy.
18 papers since 2024
›
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
The American Journal of Human Genetics, 2025
The N=1 Collaborative: advancing customized nucleic acid therapies through collaboration and data sharing
Nucleic Acids Research, 2025
Possibilities and limitations of antisense oligonucleotide therapies for the treatment of monogenic disorders
Communications Medicine, 2024
Source: OpenAlex author A5087809135
Funded by Medical Research Council
›
Medical Research Council · active
“Medical Research Council”
Source: lab pages
6 platforms and techniques
›
Techniques
Antisense oligonucleotides, Gene editing, Gene replacement, Computational pipelines, Exon skipping, 3D neuromuscular junction on-a-chip
Source: lab pages
Currently hiring
›
“We have an open position for a postdoctoral researcher”
Source: lab positions page
Clinical Trial Service Unit and Epidemiological Studies Unit (CTSU)
Works in cancer genetics and population genetics.
Poster
Fri Oct 23
2:30 pm
SLC6A9, a constrained colonic glycine transporter, is a candidate colorectal cancer susceptibility gene: rare-variant discovery in UK Biobank with convergent functional and metabolomic evidence
Collaborators: Cyprus Institute of Neurology and Genetics
CancerExome/genome sequencingLarge-scale biobanksPopulation genetics
Oxford Population Health
Works in population genetics.
Poster
Thu Oct 22
4:15 pm
Phenotypic and genetic analyses of complex traits in the family-based Lifelines biobank
Collaborators: The University of Queensland, University of Groningen
Complex traitsComplex diseasesGene environment interactionGenome-wide association study
Wray-Visscher Group
Works in clinical genetics and therapeutics.
Poster
Thu Oct 22
4:15 pm
Medication context shapes pharmacogenetic effects of CYP2C19, CYP2D6, and CYP2B6 on antidepressant switching
Collaborators: University of Groningen, University of Dundee +1 more
PharmacogenomicsPrecision medicineElectronic health recordsDepression
1 more presenter — research group not yet identified

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