Karen Spilsbury, Andy Charlwood, Carl Thompson, Kirsty Haunch, Danat Valizade, Reena Devi, Cornell Jackson, David Phillip Alldred, Antony Arthur, Lucy Brown, Paul Edwards, Will Fenton, Heather Gage, Matthew Glover, Barbara Hanratty, Julienne Meyer, Aileen Waton
Relationship between staff and quality of care in care homes: StaRQ mixed methods study
Health and social care delivery research
missense de novo variants dnvs missense somatic variants contribute neurodevelopmental disorders ndds cancer respectively proteins statistical enrichment based analyses variants exhibit convergence differing ndd cancer phenotypes herein question proteins identified phenotypes examined investigation clustering missense variation protein level hypothesis missense variation present different protein locations two phenotypes leading distinct phenotypic outcomes tested hypothesis 1d protein space using software clump furthermore newly developed 3dclump uses 3d protein structures spatially test clustering missense variation proteomewide significance examined missense dnvs 39883 parentchild sequenced trios ndds missense somatic variants 10543 sequenced tumors covering five tcga cancer types two cosmic pancancer aggregates tissue types 57 proteins proteomewide significant missense variation clustering ndds compared cancers 79 proteins proteomewide significant missense clustering cancers compared ndds main objective identify differences patterns missense variation also identified novel ndd protein bltp2 overall study innovative provides new insights differential missense variation ndds cancer proteinlevel contributes necessary information toward building framework thinking prognostic therapeutic aspects proteins