Methods:Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the general
population
Khalid K. Alharbi,
Mohammed A. Aldahmesh,
Emmanuel Spanakis,
Lema Haddad,
Roslyn A. Whittall,
Xiao-he Chen,
Hamid Rassoulian,
Matt J. Smith,
Julie Sillibourne,
Nicola J. Ball,
Nikki J. Graham,
Patricia J. Briggs,
Iain A. Simpson,
David I.W. Phillips,
Deborah A. Lawlor,
Shu Ye,
Stephen E. Humphries,
Cyrus Cooper,
George Davey Smith,
Shah Ebrahim,
Diana M. Eccles,
and Ian N.M. Day
Genome Res. July 2005 15: 967-977; doi:10.1101/gr.3313405
