Methods of identifying point mutations in a genome that cause or accelerate disease

作者: William Thilly

DOI:

关键词: GeneticsBiologyLarge populationPoint mutationDiseaseGenomePopulationMutation rate

摘要: The invention relates to a method for identifying inherited point mutations in targeted region of the genome large population individuals and determining which are deleterious, harmful or beneficial. Deleterious identified directly by recognition using set observed juveniles. Harmful comparison mutation juveniles aged same population. Beneficial similarly identified.

参考文章(4)
William G. Thilly, Phouthone Keohavong, Determination of a mutational spectrum ,(1990)
William G. Thilly, Phouthone Koehavong, Roger W. Giese, Barry L. Karger, Frantisek Foret, Aharon S. Cohen, Konstaintin Khrapko, Electrophoretic detection and separation of mutant DNA using replaceable polymer matrices ,(1994)
Thomas R. Gingeras, Stephen P. A. Fodor, Earl A. Hubbell, Peter E. Lobban, Nila Shah, Macdonald S. Morris, Charles Garrett Miyada, Robert J. Lipshutz, Xiaohua C. Huang, Maureen T. Cronin, Mark Chee, Edward L. Sheldon, Arrays of nucleic acid probes on biological chips ,(1994)