ISO 21393:2021 ゲノミクス情報学— Omics Markup Language（OML） | ページ 6

3.1

actor

something or someone who supplies a stimulus to the system

Note 1 to entry: Actors include both humans and other quasi-autonomous things, such as machines, computer tasks and systems.

[SOURCE: ISO 25720:2009, 4.1]

3.2

allele

gene that is found in one of two or more different forms in the same position in a chromosome

3.3

bioinformatic sequence markup language

BSML

extensible language specification and container for bioinformatic data

[SOURCE: ISO 25720:2009, 4.2]

3.4

cancer genome anatomy project

CGAP

genomic expression data collected for various tumorigenic tissues in both humans and mice

Note 1 to entry: CGAP also provides information on methods and reagents used in deriving the genomic data

[SOURCE: ISO 25720:2009, 4.4, modified]

3.5

codon

sequence of three nucleotides which together form a unit of genetic code in a DNA or RNA molecule

3.6

dbSNP

database of single nucleotide polymorphisms (3.29) provided by the US National Center for Biotechnology Information (NCBI)

Note 1 to entry: Available at https://www.ncbi.nlm.nih.gov/SNP/ .

[SOURCE: ISO/TS 20428:2017, 3.9]

3.7

digital imaging and communications in medicine

DICOM

standard in the field of medical informatics for exchanging digital information between medical imaging equipment (such as radiological imaging) and other systems, ensuring interoperability

[SOURCE: ISO 25720:2009, 4.6]

3.8

DNA sequence variation

differences of DNA sequence among individuals in a population

Note 1 to entry: DNA sequence variation implies polymorphism 3.25.

[SOURCE: ISO 25720:2009, 4.8]

3.9

document type definition

DTD

document that contains formal definitions of all of the data elements in a particular type of hypertext markup language 3.13, standard generalized markup language (3.29) , or extensible markup language (3.36) document

[SOURCE: ISO 25720:2009, 4.9]

3.10

entry point

reference point that designate the class(es) from which the messages begin for the domain

[SOURCE: ISO 25720:2009, 4.10, modified]

3.11

exon

part of a gene that will encode a part of the final mature RNA produced by that gene after introns (3.16) have been removed by RNA splicing

3.12

genomic sequence variation markup language

GSVML

standard for data exchange of genomic sequence variation data

3.13

hypertext markup language

HTML

set of markup symbols or codes inserted in a file intended for display in a browser

[SOURCE: ISO 25720:2009, 4.12, modified]

3.14

international classification of diseases

ICD

diagnose coding system for epidemiology, health management and clinical purposes

Note 1 to entry: ICD-10 is the 10th revision and ICD-11th is the 11th revision.

Note 2 to entry: available at https://icd.who.int/ .

3.15

clinical omics sub-information model for international classification of diseases

clinical omics sub-information model for ICD

iCOS

sub-information model aiming to enhance the representation ability of ICD-11 contents model with covering omics information as an add-on part.

Note 1 to entry: Add-on sub-information model to enhance the representation ability of ICD-11 contents model to cover omics information.

3.16

intron

nucleotide sequence within a gene that is removed by RNA splicing during maturation of the final RNA product

3.17

joint photographic experts group

JPEG

compression technique for images

[SOURCE: ISO 25720:2009, 4.13]

3.18

markup language

ml

set of symbols and rules for their uses when doing a markup of a document

[SOURCE: ISO 25720:2009, 4.15]

3.19

microarray gene expression markup language

MAGE-ML

data format for describing information about DNA-array based experiments and gene expression data

3.20

neuro markup language

neuro-ML

markup language (3.18) for describing models of neurons and networks of neurons.

[SOURCE: ISO 25720:2009, 4.16]

3.21

nroff

unix text-formatting program that is a predecessor of the Unix troff (3.33) document processing system

[SOURCE: ISO 25720:2009, 4.17]

3.22

omics

field of study in biology ending in -omics

Note 1 to entry: It includes, but is not limited to, genomics, proteomics, and metabolomics.

3.23

pharmacogenomics

branch of pharmaceutics aiming to develop rational means to optimize drug therapy, with respect to the patient's genotype

3.24

polymorphism mining and annotation programs

PolyMAPr

programs for polymorphism (3.25) database mining, annotation, and functional analysis

[SOURCE: ISO 25720:2009, 4.19]

3.25

polymorphism

variation in the sequence of DNA among individuals

Note 1 to entry: Polymorphism implies single nucleotide polymorphism (3.29) and short tandem repeat polymorphism (3.32) .

[SOURCE: ISO 25720:2009, 4.20]

3.26

RNA markup language

RNAML

data format for exchanging RNA information

3.27

systems biology markup language

SBML

markup language (3.18) for simulations in systems biology

[SOURCE: ISO 25720:2009, 4.21]

3.28

standard generalized markup language

SGML

markup language (3.18) for document representation that formalizes markup and frees it of system and processing dependencies

[SOURCE: ISO 8879:1986, 4.305, modified]

3.29

single nucleotide polymorphism

SNP

single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population

[SOURCE: ISO 25720:2009, 4.23]

3.30

systematized nomenclature of medicine-clinical terms® ²

SNOMED-CT®

dynamic, scientifically validated clinical health care terminology and infrastructure

[SOURCE: ISO 25720:2009, 4.24]

3.31

simple object access protocol

SOAP

lightweight protocol for exchange of information in a decentralized, distributed environment

[SOURCE: ISO 25720:2009, 4.25]

3.32

short tandem repeat polymorphism

STRP

variable segments of DNA that are two to five bases long with numerous repeats

[SOURCE: ISO 25720:2009, 4.26]

3.33

troff

major component of a document processing system developed by AT&T for the Unix operating system

3.34

wireless markup language

WML

extensible markup language used to specify content and user interface for WAP (Wireless Application Protocol) devices

[SOURCE: ISO 25720:2009, 4.29]

3.35

extensible HTML

XHTML

hybrid between hypertext markup language 3.13 and extensible markup language (3.36) specifically designed for net device displays

[SOURCE: ISO 25720:2009, 4.30]

3.36

extensible markup language

XML

pared-down version of standard generalized markup language (3.29) , designed especially for web documents

[SOURCE: ISO 25720:2009, 4.31]

3.37

XML schema

language for describing the structure and constraining the contents of extensible markup language documents

[SOURCE: ISO 25720:2009, 4.32]