Detecting long repeat expansions - an emerging cause of neurodegenerative disorders

Repeat expansions are simply an increase in the number of consecutive copies in a genome of a short sequence of DNA bases above what is typical in the population. While such repeat sequences are widespread in the human genome and size variations in most of ...

10 Simple Rules for Sharing Human Genomic Data

Manuscript originally submitted to Biorxiv.org Manuel Corpas, Charlotte Whicher, Nadezda V. Kovalevskaya, Tom Byers, Amanda A. McMurray, Fiona G.G. Nielsen, Varsha K. Khodiyar Repositive Ltd, Future Business Centre, Cambridge, UK ↩ Springer Nature, London, UK ↩ Introduction Delivery of the promise of precision medicine relies ...