2.7k citations
- University of CambridgeGB17 papers
- European Bioinformatics InstituteGB11 papers
- Harvard UniversityUS8 papers
- University of HelsinkiFI6 papers
- University of OxfordGB5 papers
- University College LondonGB4 papers
- Addenbrooke's HospitalGB3 papers
- Broad InstituteUS3 papers
- Cambridge University Hospitals NHS Foundation TrustGB3 papers
- Centre for Human GeneticsGB3 papers
- Helsinki Institute for Information TechnologyFI3 papers
- University of California San DiegoUS3 papers
40 papers
Pangenome-guided sequence assembly via binary optimisation
Josh Cudby, James Bonfield, Chenxi Zhou +2
De novo genome assembly is challenging in highly repetitive regions; however, reference-guided assemblers often suffer from bias. We propose a framework for pangenome-guided sequen…
Combining multiplexed functional data to improve variant classification
Atlas of Variant Effects Alliance, :, Jeffrey D. Calhoun +10
With the surge in the number of variants of uncertain significance (VUS) reported in ClinVar in recent years, there is an imperative to resolve VUS at scale. Multiplexed assays of…
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
L Cif, D Demailly, JP Lin +112
Heterozygous mutations in KMT2B are associated with an early-onset, progressive, and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor feat…
Dynamic Retrieval Augmented Generation of Ontologies using Artificial Intelligence (DRAGON-AI)
Sabrina Toro, Anna V Anagnostopoulos, Sue Bello +27
Background: Ontologies are fundamental components of informatics infrastructure in domains such as biomedical, environmental, and food sciences, representing consensus knowledge in…
Inferring the heritability of bacterial traits in the era of machine learning
The Tien Mai, John A Lees, Rebecca A Gladstone +1
Quantification of heritability is a fundamental desideratum in genetics, which allows an assessment of the contribution of additive genetic variation to the variability of a trait…
EpiBeds: Data informed modelling of the COVID-19 hospital burden in England
Christopher E. Overton, Lorenzo Pellis, Helena B. Stage +9
The first year of the COVID-19 pandemic put considerable strain on the national healthcare system in England. In order to predict the effect of the local epidemic on hospital capac…