ISO/TS 20428:2024 ゲノミクス情報学 — 電子医療記録に構造化された臨床ゲノム配列情報を記述するためのデータ要素とそのメタデータ | ページ 6

3.1

allele

one of several alternate forms of a gene (3.15) which occur at the same locus on homologous chromosomes (3.4) and which become separated during meiosis and can be recombined following fusion of gametes

[SOURCE:ISO 16577:2016, 3.4]

3.2

benign

benign variant

alterations with very strong evidence against pathogenicity

3.3

biomaterial

materials taken from the human body such as tissue, blood, plasma, or urine

3.4

chromosome

structure that comprises discrete packages of DNA (3.11) and proteins that carries genetic information which condense to form characteristically shaped bodies during nuclear division

[SOURCE:ISO 19238:2014, 2.7]

3.5

clinical sequencing

next-generation sequencing or later sequencing technologies with human samples for clinical practice and clinical trials

3.6

ClinVar

freely accessible, public archive of reports of the relationships among human variations (3.31) and phenotypes, with supporting evidence variant (3.31)

Note 1 to entry: ClinVar is available at https://www.ncbi.nlm.nih.gov/clinvar/ .

3.7

copy number variation

CNV

variation (3.31) in the number of copies of one or more sections of the DNA (3.11)

3.8

Catalogue of Somatic Mutations in Cancer

COSMIC

online database of somatically acquired mutations found in human cancer

Note 1 to entry: COSMIC is available at http://cancer.sanger.ac.uk/cosmic .

3.9

dbSNP

database of SNPs (3.32) provided by the US National Center for Biotechnology Information (NCBI)

Note 1 to entry: dbSNP is available at https://www.ncbi.nlm.nih.gov/snp/ .

3.10

deletion

variant (3.31) in which a part of a chromosome (3.4) or a sequence of DNA (3.11) is lost during DNA replication

3.11

deoxyribonucleic acid

DNA

molecule that encodes genetic information in the nucleus of cells

[SOURCE:ISO 25720:2009, 4.7]

3.12

DNA sequencing

determining the order of nucleotide bases (adenine, guanine, cytosine and thymine) in a molecule of DNA (3.11)

Note 1 to entry: Sequence is generally described from the 5’ end.

[SOURCE:ISO/TS 17822-1:2014, 3.20]

3.13

electronic medical record

EMR

electronic health record

EHR

electronic record derived from a computerized system used primarily for delivering patient care in a clinical setting

[SOURCE:ISO/TR 24291:2021, 3.3, modified — The preferred term “electronic health record” and its abbreviation “EHR” have been added.]

3.14

exome

part of the genome formed by exons

3.15

gene

basic unit of hereditary material that encodes and controls the expression of a protein or protein subunit

[SOURCE:ISO 11238:2012, 2.1.16]

3.16

gene panel

technique for sequencing the targeted genes (3.15) in a genome

3.17

genomic medicine

medical discipline that involves using genomic information about an individual as part of their clinical care (e.g. for diagnostic or therapeutic decision-making) and the health outcomes and policy implications of that clinical use

3.18

germline

series of germ cells each descended or developed from earlier cells in the series, regarded as continuing through successive generations of an organism

3.19

indel

insertion (3.20) or/and deletion (3.10)

3.20

insertion

addition of one or more nucleotide base pairs into a DNA (3.11) sequence

3.21

inversion

chromosome (3.4) rearrangement in which a segment of a chromosome is reversed end to end

3.22

large indel

insertion (3.20) or deletion (3.10) of greater than 100 nucleotides and less than 1 000 nucleotides

3.23

likely benign

likely benign variant

alterations with strong evidence against pathogenicity

Note 1 to entry: Targeted testing of at-risk family members is not recommended.

3.24

likely pathogenic

likely pathogenic variant

alterations with strong evidence in favour of pathogenicity

3.25

pathogenic

pathogenic variant

genetic alteration that increases an individual’s susceptibility or predisposition to a certain disease or disorder

[SOURCE:National Cancer Institute Dictionary of Genetic Terms]

3.26

prenatal

foetal

biomaterial (3.3) sample of foetuses before birth

Note 1 to entry: Prenatal DNA sequencing (3.12) is the reading of the DNA (3.11) of foetuses to diagnose Mendelian disease of an unborn child.

3.27

sequence read

read

fragmented nucleotide sequences which are used to reconstruct the original sequence for next generation sequencing technologies

3.28

read type

type of sequence read (3.27) whose format depends on the sequencing instrument

Note 1 to entry: It can be either single-end or paired-end.

Note 2 to entry: Single-end read are produced when the sequencing instrument reads from one end of a fragment to the other end.

Note 3 to entry: Paired-end reads are produced when the sequencing instrument reads from one end to the other end, and then starts another round of reading from the opposite end.

3.29

reference sequence

digital nucleic acid sequence database, assembled by scientists as a representative example of human genome

3.30

ribonucleic acid

RNA

polymer of ribonucleotides occurring in a double-stranded or single-stranded form

[SOURCE:ISO 22174:2005, 3.1.3]

3.31

sequence variation

DNA sequence variation

variation

variant

differences of DNA (3.11) sequence among individuals in a population

Note 1 to entry: Variant implies CNV (3.7) , deletion (3.10) , insertion (3.20) , indel (3.19) , small indel (3.33) , large indel (3.22) , and SNP (3.32) .

[SOURCE:ISO 25720:2009, 4.8, modified — The preferred terms “sequence variation”, “variation” and “variant” have been added; the original note has been deleted and a new Note 1 to entry has been added.]

3.32

single nucleotide polymorphism

SNP

single nucleotide variation (3.31) in a genetic sequence that occurs at appreciable frequency in the population

Note 1 to entry: It is pronounced “snip”.

[SOURCE:ISO 25720:2009, 4.23, modified — Note 1 to entry has been added.]

3.33

small indel

insertion (3.20) or deletion (3.10) of 2 to 100 nucleotides

3.34

somatic variant

variant (3.31) that occurs in the cells of the body that are not germ line cells

3.35

biological specimen

biospecimen

specimen

sample of tissue, body fluid, food, or other substance that is collected or acquired to support the assessment, diagnosis, treatment, mitigation or prevention of a disease, disorder or abnormal physical state, or its symptoms

3.36

subject of care

SOC

person who uses, or is a potential user of, a health care service

[SOURCE:ISO/TS 22220:2011, 3.2, modified — The admitted term “subject of healthcare” and the Note have been removed.]

3.37

target capture

method to capture genomic regions of interest from a DNA (3.11) sample prior to sequencing

3.38

uncertain significance

uncertain clinical relevance

variant (3.31) with limited and/or conflicting evidence regarding pathogenicity

3.39

whole exome sequencing

WES

technique for sequencing all the protein-coding genes in a genome

3.40

whole genome sequencing

WGS

technique that determines the complete DNA (3.11) sequence of an organism's genome at a single time