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New technologies have revealed widespread structural variation in the human genome, including copy-number variants, insertions, inversions and translocations. These variants are predicted to comprise millions of nucleotides of heterogeneity within every genome, with important implications for human diversity and disease.
Contrary to the neutral theory, silent mutations can be under natural selection. This is often seen in organisms from large populations, but the authors present evidence that it also occurs in mammals, because synonymous mutations affect mRNA stability and splicing.
Evolution experiments with digital organisms have allowed insights that are not possible in biological systems. This review discusses some of the advances in understanding the interaction between mutation rate and genomic architecture, and also the evolution of sex.
Recent advances in tools for extracting facts from the scientific literature will soon enable the automatic annotation and analysis of the growing number of system-wide experimental data sets. Mining the literature is also rapidly becoming useful for both hypothesis generation and biological discovery.
Genome annotation is rapidly moving beyond the one-dimensional view that sequence analysis provides. Growing information about component interactions allows two-dimensional annotations to be generated, while knowledge about the physical arrangement of chromosomes and the changes that occur during evolution add third and fourth dimensions.
Patents for genetic inventions have increased in recent years, raising fears that this practice will restrict access to research and health care. Models for facilitating access to patented genetic inventions already exist, whereas others can be developed for use in genetics.
The patentability of genes is a controversial issue. As a partial remedy, many countries have exemptions from patent liability for non-commercial research. However, these exemptions are themselves problematic. The authors examine solutions to the problem and advocate the abolition of gene patents.
