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Understanding human genetic variation in the era of high‐throughput sequencing
Author(s) -
Knight Julian C.
Publication year - 2010
Publication title -
embo reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.584
H-Index - 184
eISSN - 1469-3178
pISSN - 1469-221X
DOI - 10.1038/embor.2010.126
Subject(s) - human genetic variation , genetic variation , biology , variation (astronomy) , human genome , relevance (law) , human genetics , computational biology , dna sequencing , human disease , evolutionary biology , data science , genome , genetics , computer science , gene , political science , law , physics , astrophysics
The EMBO/EMBL symposium ‘Human Variation: Cause and Consequence’ highlighted advances in understanding the molecular basis of human genetic variation and its myriad implications for biology, human origins and disease. As high‐throughput sequencing allows us to define genetic variation and its functional consequences at genome‐wide resolution for a large number of people, important questions need to be asked about how to use new technologies to maximize the translational relevance of genetic research for society and the individual patient.