Genetic and pharmacological causes of germline hypermutation
Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, et al.
Nature
DOI: https://doi.org/10.1038/s41586-022-04712-2
Population genomics
Publications
A list of publications arising from our work is shown below. If you know of a relevant publication not listed here, please let us know via email.
222 publications
Data usage
A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Eleanor G. Seaby, Damian Smedley, Ana Lisa Taylor Tavares, et al.
Genetics in Medicine
DOI: DOI:https://doi.org/10.1016/j.gim.2022.04.019
Enhanced interpretation
SARS-CoV-2 susceptibility and ACE2 gene variations within diverse ethnic backgrounds
Nirmal Vadgama, Alexander Kreymerman, Jackie Campbell, et al.
Frontiers in Genetics
DOI: doi.org/10.3389/fgene.2022.888025
Integrated pathogens and mobile elements
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer
Jamie Trotman, Ruth Armstrong, Helen Firth, et al.
British Journal of Cancer
DOI: https://doi.org/10.1038/s41416-022-01788-5
Childhood solid cancers
Substitution mutational signatures in whole-genome–sequenced cancers in the UK population
Andrea Degasperi; Tauanne Dias Amarante; Andrea Martinez-Martinez; et al.
Science
DOI: DOI: 10.1126/science.abl9283
Pan cancer (across cancers)
