遗传学实验技术

Metabolomics is the relatively new field in bioinformatics that uses measurements on metabolite abundance as a tool for disease diagnosis and other medical purposes. Although closely related to proteomics, the statistical analysis is potentially simpler since biochemists have ...

While researchers have known the importance of the protein–protein interaction for decades, recent innovations in large-scale screening techniques have caused a shift in the paradigm of protein function analysis. Where the focus was once on the individual protein, attention is now di ...

Differences in gene regulation are thought to play an important role in speciation and adaptation. Comparative genomic studies of gene expression levels have identified a large number of differentially expressed genes among species, and, in a number of cases, also pointed to connections ...

The network structure that captures the common evolutionary history of a diploid population has been termed an ancestral recombinations graph. When the structure is a tree the number of internal nodes is usually where K is the number of samples. However, when the structure is not a tree, this number h ...

The full genomes of several closely related species are now available, opening an emerging field of investigation borrowing both from population genetics and phylogenetics. Providing we can properly model sequence evolution within populations undergoing speciation events, ...

In this chapter, we give a short introduction to the genetics of complex disease with special emphasis on evolutionary models for disease genes and the effect of different models on the genetic architecture, and finally give a survey of the state-of-the-art of genome-wide association studie ...

Recombination acts to shuffle the existing genetic variation within a population, leading to various approaches for detecting its action and estimating the rate at which it occurs. Here, we discuss the principal methodological and analytical approaches taken to understanding the d ...

This chapter reviews the current research on how protein domain architectures evolve. We begin by summarizing work on the phylogenetic distribution of proteins, as this directly impacts which domain architectures can be formed in different species. Studies relating domain family s ...

New genes are a major source of genetic innovation in genomes. However, until recently, understanding how new genes originate and how they evolve was hampered by the lack of appropriate genetic datasets. The advent of the genomic era brought about a revolution in the amount of data available to study ...

Vast tracts of noncoding DNA contain elements that regulate gene expression in higher eukaryotes. Describing these regulatory elements and understanding how they evolve represent major challenges for biologists. Advances in the ability to survey genome-scale DNA sequence data ...

Populations evolve as mutations arise in individual organisms and, through hereditary transmission, may become “fixed” (shared by all individuals) in the population. Most mutations are lethal or have negative fitness consequences for the organism. Others have essentially no effe ...

RNA viruses evolve very rapidly, often recombine, and are subject to strong host (immune response) and anthropogenic (antiretroviral drugs) selective forces. Given their compact and extensively sequenced genomes, comparative analysis of RNA viral data can provide important ins ...

Ever since Darwin, the familiar genealogical pattern known as the Tree of Life (TOL) has been prominent in evolutionary thinking and has dominated not only systematics, but also the analysis of the units of evolution. However, recent findings indicate that the evolution of DNA, especially in pr ...

Genome-wide comparison of phylogenetic trees is becoming an increasingly common approach in evolutionary genomics, and a variety of approaches for such comparison have been developed. In this article, we present several methods for comparative analysis of large numbers of phyloge ...

Large-scale databases are available that contain homologous gene families constructed from hundreds of complete genome sequences from across the three domains of life. Here, we discuss the approaches of increasing complexity aimed at extracting information on the pattern and pro ...

Phylogenies based on different genes can produce conflicting phylogenies; methods that resolve such ambiguities are becoming more popular, and offer a number of advantages for phylogenetic analysis. We review so-called species tree methods and the biological forces that can under ...

Recent work has emphasised that the human genome is not simple and static, but complex and dynamic. This review focuses on the regions that are particularly hard to dissect and analyse, yet hold clues to how the genome changes during evolution and disease. I begin by summarising recent key advances in t ...

Structural variation, whether it is caused by copy number variants or present in a balanced form, such as reciprocal translocations and inversions, can have a profound and dramatic effect on the expression of genes mapping within and close to the rearrangement, as well as affecting others geno ...

The diagnostic benefits of array comparative genomic hybridisation (CGH) have been demonstrated, with this technique now being applied as the first-line test for patients with intellectual disabilities and/or multiple congenital anomalies in numerous laboratories. There a ...

Subtelomeres are an incredibly dynamic part of the human genome located at the ends of chromosomes just proximal to telomere repeats. Although subtelomeric variation contributes to normal polymorphism in the human genome and is a by-product of rapid evolution in these regions, rearran ...