Neil Thomas

Salisbury District Hospital — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

13h-index1.6kcitations26works58.92yr avg
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Research Topics

RNA and protein synthesis mechanisms(8), Protein Structure and Dynamics(6), Genomics and Phylogenetic Studies(5), CRISPR and Genetic Engineering(4), Genomics and Rare Diseases(4)

Publications26 total

P155 Development of a patient facing interface for hepatocellular carcinoma surveillance at University Hospital Southampton
2025
Is CFAP53 a cause of primary ciliary dyskinesia (PCD)?
2025
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
Genetics in Medicine·2025· 3 citedOpen Access
Predicting Caregiver Burden Using Motion Sensor Data and Machine Learning: A Supportive Approach for Persons with Cognitive Decline
2025
Engineering highly active nuclease enzymes with machine learning and high-throughput screening
Cell Systems·2025· 15 citedOpen Access
Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome
2025Open Access
Simulating 500 million years of evolution with a language model
Science·2025· 439 cited
Engineering of highly active and diverse nuclease enzymes by combining machine learning and ultra-high-throughput screening
2024· 15 citedOpen Access
Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Journal of Medical Genetics·2023· 9 citedOpen Access
A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project
2023· 2 citedOpen Access
Whole-genome sequencing reveals a complex African population demographic history and signatures of local adaptation
Cell·2023· 89 citedOpen Access
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Human Genetics·2022· 17 citedOpen Access
End-to-end learning of multiple sequence alignments with differentiable Smith–Waterman
Bioinformatics·2022· 38 citedOpen Access
Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency
Proceedings of the National Academy of Sciences·2022· 32 citedOpen Access
Tuned Fitness Landscapes for Benchmarking Model-Guided Protein Design
2022· 8 citedOpen Access
Targeting <i>de novo</i> loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
2022· 1 citedOpen Access
Interpreting Potts and Transformer Protein Models Through the Lens of Simplified Attention
2021· 23 citedOpen Access
Minding the gaps: The importance of navigating holes in protein fitness landscapes
Cell Systems·2021· 4 cited
End-to-end learning of multiple sequence alignments with differentiable Smith-Waterman
2021· 14 citedOpen Access
Single Layers of Attention Suffice to Predict Protein Contacts
2020· 35 citedOpen Access
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Frequent Co-authors

Roshan Rao(7), Yun S. Song(7), Nicholas Bhattacharya(6), Justas Dauparas(4), Peter K. Koo(4), Sergey Ovchinnikov(4), Ana Lisa Taylor Tavares(4), Diana Baralle(4), Lucy J. Colwell(4), Eleanor G. Seaby(3), Helen Brittain(3), Heidi L. Rehm(3), Anne O’Donnell‐Luria(3), Sarah Ennis(3), David Belanger(3), Jenny C. Taylor(3), Alistair T. Pagnamenta(3), John W. Holloway(3), Yan Duan(2), Xi Chen(2)