Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Lucy Loong(Institute of Cancer Research), Christopher Bowles(Institute of Cancer Research), Brendan Mullaney(Royal Marsden NHS Foundation Trust), Beth McIldowie(Royal Marsden NHS Foundation Trust), A. M. Hadonou, Alison Taylor‐Beadling, Angie Brady, Catherine Clabby(University of Hull), Helen Hanson(University of Exeter), Catarina Olimpio(Institute of Cancer Research), Carmen C. Brewer(National Institute on Deafness and Other Communication Disorders), Ashis Kumar, Sophie Allen(Institute of Cancer Research), A. Kulkarni(Guy's and St Thomas' NHS Foundation Trust), James Drummond(Cambridge University Hospitals NHS Foundation Trust), James S. Ware(Royal Brompton & Harefield NHS Foundation Trust), Anne R. Murray(Institute of Cancer Research), Shalaka Samant(Institute of Cancer Research), Clare Turnbull(Institute of Cancer Research), Rachel Robinson(Leeds Teaching Hospitals NHS Trust), Alison Ross(Wessex Regional Genetics Laboratory), Azhar Ansari, Anna Znaczko, Alice Garrett(Institute of Cancer Research), Andrew H. Crosby(University of Exeter), Beverley Speight(Royal Marsden NHS Foundation Trust), Marc Tischkowitz(University of Cambridge), A. Micheil Innes(University of Calgary), Charisma L. Jenkins(Institute of Cancer Research), Brian W. Coad(Royal Marsden NHS Foundation Trust), Anneke Lucassen(Centre for Human Genetics), Alison Callaway(Wessex Regional Genetics Laboratory), George J. Burghel, Andrew J. Wallace(St Mary's Hospital), Bianca DeSouza(Guy's and St Thomas' NHS Foundation Trust), Christine Armstrong(Institute of Cancer Research), Miranda Durkie(Sheffield Children's NHS Foundation Trust), Chey Loveday(Institute of Cancer Research), Cankut Çubuk(Queen Mary University of London), Caoimhe McKenna(Children's Oncology Group), Sian Ellard(University of Exeter), Adam Shaw, Algy Taylor, Alan Donaldson(University Hospitals Bristol NHS Foundation Trust), Subin Choi(Institute of Cancer Research), Andrew C. Hogg(Manchester University NHS Foundation Trust), Ian Berry(Leeds Teaching Hospitals NHS Trust), Beth Torr(Institute of Cancer Research), A. Ramsay Bowden
Cited by 18
Related Papers
Analysis of protein-coding genetic variation in 60,706 humans
|Nature|2016|10.3k
2023 ESC Guidelines for the management of cardiomyopathies
|European Heart Journal|2023|2.3k
The mutational constraint spectrum quantified from variation in 141,456 humans
|bioRxiv (Cold Spring Harbor Laboratory)|2019|1.8k