Essays on Science and SocietyGenome-Sequencing Anniversary

Bringing Genomics and Genetics Back Together

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Science  04 Feb 2011:
Vol. 331, Issue 6017, pp. 548
DOI: 10.1126/science.1203017

Ten years already? There have been cycles: When we produced the first sequence, we were all amazed to see the lower-than-expected gene count and the size of each of the categories of the functional class of gene products—even though we had no clue about the functional roles of at least one-half of them. Many of us also expected wide enthusiasm for more sequencing, more biology, and more discovery. Instead, the community was slow to warm up to genomics. Sequencing the first human genome really changed the way all biologists work, but it did not change many opinions about “big science.” Now, after several years of model organism genomes, deep surveys of genetic variation, and a burst of technical development, appetites are increasing for DNA sequencing and experiments on the scale of the human genome project. In studies of human biology, personal diploid genome sequences have shown the way forward, but the most exciting data now are from solving the genetics of individual Mendelian disorders, where the phenotype-genotype relationships really make sense. The new methods and the willingness to tackle human Mendelian genetics, with attention to modifiers and heterogeneity, will enable the realization of the impact of genomics in genetics. Genomics became a discipline that was separated from genetics more than 20 years ago, but now the two are coming back together.

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