Christoffer Nellåker
Contact information
Christoffer Nellåker
Associate Professor
Computational phenotyping, medical image analysis
I am Associate Professor based in the Big Data Institute and part of the Nuffield Department of Women's and Reproductive Health. With my background in neurovirology, computational biology, machine learning and computer vision research, my groups focus resides firmly in translational interdisciplinary research.
Computational phenotyping
My research interests all fall within the wider scope of analysing high information content data (such as image data) to extract biologically meaningful information to aid understanding of basic biological processes and genetic associations, or direct impact on clinical pathways.
Histology image analysis
In collaboration with the Prof. Cecilia Lindgren group, and with research and clinical collaborators around the world we investigate histology based phenotyping of placenta and metabolic health relevant tissues.
Placenta is a severely understudied organ, considering its pivotal role in gestational development of a healthy fetus. A significant proportion of pregnancy and birth complications are known to have some etiological or associated changes in placenta structure or function. Commonly, placenta is sent for histopathological assessment after a severe adverse outcome during pregnancy - however the potential value of this tissue imaging is lacking due to perinatal pathologists' extreme workloads and relatively few quantitative metrics able to be analysed. Utilising a heirarchical bottom up approach we systematically analyse large microscopy imaging of heamatoxylin and eosin stained placenta tissue sections. By building up tissue phenotype signatures from cells, to tissue we can get robust signatures of morphology and structure relevant to organ health.
Adipose tissue is a key endocrine and energy storage organ for metabolic health and disease. By employing computer vision analysis of histological sections we extract phenoytpe metrics associated to disease states and genetic variants.
Antimicrobial resistance testing
Antimicrobial resistance has been identified as one of the largest threats to public health developing around the world. We are researching methods to speed up and improve clinical pathways for targeting the right microbes with the right antibiotics.
Through an ongoing collaboration with Department of Physics and the Nuffield Department of Clinical Medicine, grown under the Oxford Martin Programme on Antimicrobial Resistance Testing. Within this project we are looking to enable direct testing of clinical samples, using ultrasensitive microscopy tests, sophisticated image analysis and machine learning, hugely speeding up the process by which clinicians obtain the information they need.
Facial phenotyping for rare disease
Rare diseases are individually rare but collectively very common, however the clinical pathway to acurately diagnose a rare disease can be very long. We are researching using deep learning image analysis of facial images to help make diagnoses faster and more accurate.
It is estimated that one in seventeen people have some type of rare disease. Clinicians frequently look for characteristic changes in facial features to help find a diagnosis. Within the group we are translating the latest developments in computer vision and computational biology to aid diagnosis of rare diseases. The work is a collaborative effort to apply the latest techniques from facial recognition research for disease phenotyping. The aim is to bring this to clinical use to help narrow down the search for a correct diagnosis and to be used together with genome sequencing to identify mutations causing disease.
Key publications
Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY.
Journal article
Vanea C. et al, (2024), Nat Commun, 15
Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli.
Journal article
Zagajewski A. et al, (2023), Commun Biol, 6
Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings
Conference paper
Alvi M. et al, (2018)
Diagnostically relevant facial gestalt information from ordinary photos.
Journal article
Ferry Q. et al, (2014), Elife, 3
Recent publications
Biologically Inspired Digital Histology for Deep Phenotyping of Placental Composition Changes Across Major Lesion Types.
Preprint
Walker EC. et al, (2025)
BCL11B-related disease: a single phenotypic entity?
Journal article
Vedovato-Dos-Santos JH. et al, (2025), Eur J Hum Genet, 33, 451 - 460
Ribosome phenotypes for rapid classification of antibiotic-susceptible and resistant strains of Escherichia coli.
Journal article
Farrar A. et al, (2025), Commun Biol, 8
Rapid identification of bacterial isolates using microfluidic adaptive channels and multiplexed fluorescence microscopy.
Journal article
Chatzimichail S. et al, (2024), Lab Chip, 24, 4843 - 4858
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Journal article
Lesmann H. et al, (2024), medRxiv
Infection Inspection: using the power of citizen science for image-based prediction of antibiotic resistance in Escherichia coli treated with ciprofloxacin.
Journal article
Farrar A. et al, (2024), Sci Rep, 14
Enhancing Cross-Institute Generalisation of GNNs in Histopathology Through Multiple Embedding Graph Augmentation (MEGA)
Conference paper
Campbell J. et al, (2024)
GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.
Preprint
Lesmann H. et al, (2024)
Mapping cell-to-tissue graphs across human placenta histology whole slide images using deep learning with HAPPY.
Journal article
Vanea C. et al, (2024), Nat Commun, 15
Deep Facial Phenotyping with Mixup Augmentation
Conference paper
Campbell J. et al, (2024), Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), 14122 LNCS, 133 - 144
Deep learning and single-cell phenotyping for rapid antimicrobial susceptibility detection in Escherichia coli.
Journal article
Zagajewski A. et al, (2023), Commun Biol, 6
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis.
Journal article
Hallowell N. et al, (2023), SSM Qual Res Health, 3
Endogenous Retroviruses and Human Neuropsychiatric Disorders
Conference paper
Yolken RH. et al, (2023), 65 - 85
Democratising or disrupting diagnosis? Ethical issues raised by the use of AI tools for rare disease diagnosis
Journal article
HALLOWELL N. et al, (2023), Social Science & Medicine Qualitative Research in Health
The genetic architecture of changes in adiposity during adulthood.
Preprint
Venkatesh SS. et al, (2023)
Genetic architecture of longitudinal obesity trajectories in primary care electronic health records
Conference paper
Venkatesh S. et al, (2023), EUROPEAN JOURNAL OF HUMAN GENETICS, 31, 39 - 39
Deep Antimicrobial Susceptibility Phenotyping (DASP) Training and Evaluation Dataset, and Trained Models.
Dataset
Zagajewski A. et al, (2023)
"I don't think people are ready to trust these algorithms at face value": trust and the use of machine learning algorithms in the diagnosis of rare disease.
Journal article
Hallowell N. et al, (2022), BMC Med Ethics, 23
New Graph Node Classification Benchmark: Learning Structure from Histology Cell Graphs
Preprint
Vanea C. et al, (2022)
Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue.
Journal article
Honecker J. et al, (2022), EBioMedicine, 79
CHEDDA syndrome is an underrecognized neurodevelopmental disorder with a highly restricted ATN1 mutation spectrum.
Journal article
Palmer EE. et al, (2021), Clin Genet, 100, 468 - 477
DNA repair disorder caused by de novo monoallelic DDB1 variants is associated with a neurodevelopmental syndrome.
Journal article
White SM. et al, (2021), Am J Hum Genet, 108, 749 - 756
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Journal article
den Hoed J. et al, (2021), Am J Hum Genet, 108, 346 - 356
Transcriptome and fatty-acid signatures of adipocyte hypertrophy and its non-invasive MR-based characterization in human adipose tissue
Preprint
Honecker J. et al, (2021)
The case for open science: rare diseases.
Journal article
Rubinstein YR. et al, (2020), JAMIA Open, 3, 472 - 486
Machine Learning based histology phenotyping to investigate the epidemiologic and genetic basis of adipocyte morphology and cardiometabolic traits.
Journal article
Glastonbury CA. et al, (2020), PLoS Comput Biol, 16
call for global action for rare diseases in Africa.
Journal article
Baynam GS. et al, (2020), Nat Genet, 52, 21 - 26
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders.
Journal article
van der Donk R. et al, (2019), Genet Med, 21, 1719 - 1725
Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
Journal article
Cogné B. et al, (2019), Am J Hum Genet, 104, 530 - 541
Big data phenotyping in rare diseases: some ethical issues.
Journal article
Hallowell N. et al, (2019), Genet Med, 21, 272 - 274
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21st Newborn Case-Control Study protocol
Journal article
(2019), Gates Open Research
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative.
Journal article
Nellåker C. et al, (2019), Front Genet, 10
Turning a Blind Eye: Explicit Removal of Biases and Variation from Deep Neural Network Embeddings
Conference paper
Alvi M. et al, (2018)
De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.
Journal article
Reijnders MRF. et al, (2018), Am J Hum Genet, 102, 1195 - 1203
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Journal article
Reijnders MRF. et al, (2018), J Med Genet, 55, 104 - 113
Deep clinical and biological phenotyping of the preterm birth and small for gestational age syndromes: The INTERBIO-21 st Newborn Case-Control Study protocol.
Journal article
Kennedy SH. et al, (2018), Gates Open Res, 2
PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Journal article
Nellaker C. and Alvi M., (2017), Journal of Medical Genetics
Mining Faces from Biomedical Literature using Deep Learning
Conference paper
Dawson M. et al, (2017), Proceedings of the 8th ACM International Conference on Bioinformatics, Computational Biology,and Health Informatics, 562 - 567
Clinical and molecular consequences of disease-associated de novo mutations in SATB2.
Journal article
Bengani H. et al, (2017), Genet Med, 19, 900 - 908
Prevalence and architecture of de novo mutations in developmental disorders.
Journal article
Deciphering Developmental Disorders Study ., (2017), Nature, 542, 433 - 438
Clinical and molecular consequences of disease-associated de novo mutations in SATB2
Journal article
Nellaker C. et al, (2017), Genetics in Medicine
The RNA-editing enzyme ADAR1 controls innate immune responses to RNA.
Journal article
Mannion NM. et al, (2014), Cell Rep, 9, 1482 - 1494
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.
Journal article
Ansari M. et al, (2014), J Med Genet, 51, 659 - 668
Diagnostically relevant facial gestalt information from ordinary photos.
Journal article
Ferry Q. et al, (2014), Elife, 3
Transcriptional derepression of the ERVWE1 locus following influenza A virus infection.
Journal article
Li F. et al, (2014), J Virol, 88, 4328 - 4337
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Journal article
Ansari M. et al, (2014), Journal of Medical Genetics, 51, 659 - 668
The genomic landscape shaped by selection on transposable elements across 18 mouse strains.
Journal article
Nellåker C. et al, (2012), Genome Biol, 13
High levels of RNA-editing site conservation amongst 15 laboratory mouse strains.
Journal article
Danecek P. et al, (2012), Genome Biol, 13
Mouse genomic variation and its effect on phenotypes and gene regulation.
Journal article
Keane TM. et al, (2011), Nature, 477, 289 - 294
Sequence-based characterization of structural variation in the mouse genome.
Journal article
Yalcin B. et al, (2011), Nature, 477, 326 - 329
systematic evaluation of expression of HERV-W elements; influence of genomic context, viral structure and orientation.
Journal article
Li F. et al, (2011), BMC Genomics, 12
Rapid turnover of functional sequence in human and other genomes.
Journal article
Ponting CP. et al, (2011), Annu Rev Genomics Hum Genet, 12, 275 - 299
Expression profiling of repetitive elements by melting temperature analysis: variation in HERV-W gag expression across human individuals and tissues.
Journal article
Nellåker C. et al, (2009), BMC Genomics, 10
Mixture models for analysis of melting temperature data.
Journal article
Nellåker C. et al, (2008), BMC Bioinformatics, 9
Elevated levels of human endogenous retrovirus-W transcripts in blood cells from patients with first episode schizophrenia.
Journal article
Yao Y. et al, (2008), Genes Brain Behav, 7, 103 - 112
Influenza A virus transactivates the mouse envelope gene encoding syncytin B and its regulator, glial cells missing 1.
Journal article
Asp L. et al, (2007), J Neurovirol, 13, 29 - 37
Molecular beacon-based temperature control and automated analyses for improved resolution of melting temperature analysis using SYBR I green chemistry.
Journal article
Nellåker C. et al, (2007), Clin Chem, 53, 98 - 103
Characterization of transcribed herv-W elements in vitroand in vivo
Conference paper
Karlsson H. et al, (2007), SCHIZOPHRENIA BULLETIN, 33, 299 - 300
Evaluation of minor groove binding probe and Taqman probe PCR assays: Influence of mismatches and template complexity on quantification.
Journal article
Yao Y. et al, (2006), Mol Cell Probes, 20, 311 - 316
Transactivation of elements in the human endogenous retrovirus W family by viral infection.
Journal article
Nellåker C. et al, (2006), Retrovirology, 3
Differential transcriptional expression of genes encoding enzymes in the kynurenine metabolism of human astrocytes when infected with Influenza virus type A
Conference paper
Holze M. et al, (2006), NORDIC JOURNAL OF PSYCHIATRY, 60, 339 - 339
Cellular stressors such as viral infections increase the transcripts of HERV-W elements in vitro
Conference paper
Nellåker C. et al, (2006), SCHIZOPHRENIA RESEARCH, 81, 200 - 201
Gene expression of metabolic enzymes in the mononuclear cells of individuals with recent onset schizophrenia or schizoaffective disorder
Conference paper
Yao YR. et al, (2006), SCHIZOPHRENIA RESEARCH, 81, 72 - 73
Involvement of viruses in schizophrenia
Conference paper
Karlsson H. et al, (2006), NORDIC JOURNAL OF PSYCHIATRY, 60, 320 - 321
Elevated levels of HERV-W gag transcripts in mononuclear cells from individuals with recent-onset schizophrenia or schizoaffective disorder
Conference paper
Yao YR. et al, (2006), SCHIZOPHRENIA RESEARCH, 81, 239 - 239
Differential expression of RNA encoding HERV-W envelope and ASCT2 in the brainstem of individuals with schizophrenia
Conference paper
Nellåker C. et al, (2004), SCHIZOPHRENIA RESEARCH, 67, 221 - 222