Author/Editor     Kaput, James; Cotton, Richard G. H.; Hardman, Lauren; Al Aqee, Aida I.; Hancock, John M.
Title     Planning the human variome project
Type     članek
Vol. and No.     Letnik 30, št. 4
Publication year     2009
Volume     str. 496-510
ISSN     1059-7794 - Human mutation
Language     eng
Abstract     The remarkable progress in characterizing the human genome sequence, exemplified by the Human Genome Project and the HapMap Consortium, has led to the perception that knowledge and the tools (e.g., microarrays) are sufficient for many if not most biomedical research efforts. A large amount of data from diverse studies proves this perception inaccurate at best, and at worst, an impediment for further efforts to characterize the variation in the human genome. Because variation in genotype and environment are the fundamental basis to understand phenotypic variability and heritability at the population level, identifying the range of human genetic variation is crucial to the development of personalized nutrition and medicine.
Keywords     zaporedje človeškega genoma
karakterizacija
napredek
human genome sequence
characterizing
progress