The GenCC develops consistent terminology for describing gene-disease validity. As part of the GenCC we aligned our existing terms to the new terminology.
Please find out more about the update here.
G2P is a publicly-accessible online system designed to facilitate the development, validation, curation and distribution of large-scale, evidence-based datasets for use in diagnostic variant filtering. Each G2P entry associates an allelic requirement and a mutational consequence at a defined locus with a disease entity. A confidence level and evidence link are assigned to each entry.
Thormann A, Halachev M, McLaren W, Moore DJ, Svinti V, Campbell A, Kerr SM, Tischkowitz M, Hunt SE, Dunlop MG, Hurles ME, Wright CF, Firth HV, Cunningham F, FitzPatrick DR (2019).
Eva Lenassi, Ana Carvalho, Anja Thormann, Tracy Fletcher, Claire Hardcastle, Sarah E Hunt, Panagiotis I Sergouniotis, Michel Michaelides, Andrew R Webster, F Cunningham, Simon Ramsden, David R FitzPatrick, Graeme CM Black, Jamie M Ellingford (2021).