* The genomic and functional characteristics of disease genes.
- Increasing evidence indicates that genes containing disease causal variation have distinct functional and genomic properties. The importance of understanding these properties is highlighted by efforts to filter lists of variants from next-generation sequencing studies, where the number of potentially deleterious variants, which are in fact unrelated to disease, may be large. Available evidence indicates that the majority of disease genes are 'non-essential' and their products occupy functionally peripheral positions in protein networks. They tend to be intermediate between genes that have core biological functions, particularly low mutation rates and low haplotype diversity, and genes for which high haplotype diversity and high mutation rates are advantageous (such as those involved in sensory perception and some immune system functions). Evidence presented here supports these conclusions through analysis of integrated data sets incorporating the latest mutational profiles, linkage disequilibrium structure and other genomic properties of individual genes. The analysis highlights the contrasting functions of genes predicted as least and most likely to contain disease variation and provides a basis for filtering gene variant lists to exclude the least plausible disease candidates.
=>機能の, 関数の, 機能する, 機能上の, 実用的な, 機能的な
Overview of adj functional
The adj functional has 6 senses (first 2 from tagged texts)
1. (3) functional -- (designed for or capable of a particular function or use; "a style of writing
in which every word is functional"; "functional architecture")
2. (1) functional -- (involving or affecting function rather than physiology; "functional deafness")
3. functional -- (relating to or based on function especially as opposed to structure; "the problem
now is not a constitutional one; it is a functional one"; "delegates elected on a functional rather
than a geographical basis")
4. functional, usable, useable, operable, operational -- (fit or ready for use or service; "the
toaster was still functional even after being dropped"; "the lawnmower is a bit rusty but still
usable"; "an operational aircraft"; "the dishwasher is now in working order")
5. functional -- (designed for or adapted to a function or use; "functional education selects
knowledge that is concrete and usable rather than abstract and theoretical"; "functional
architecture")
6. running, operative, functional, working -- ((of e.g. a machine) performing or capable of
performing; "in running (or working) order"; "a functional set of brakes")
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