LP248470-9
Whole genome sequence analysis
Active
Description
Whole-genome sequencing (WGS) is analysis of a patient's entire genome to detect and identify genomic variants, such as single nucleotide variants (SNVs), small DNA insertions or deletions (indels), copy number variants (CNVs), or other structural variants (SVs). PMID: 25288881 WGS and whole-exome sequencing (WES) [LOINC: 86205-2] are performed to identify the cause of heritable diseases and for various other applications, including population genetics, cancer studies. Source: Regenstrief LOINC
Basic Part Properties
- Part Name
- Whole genome sequence analysis
- Part Display Name
- Whole genome sequence analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2017-03-08
- Construct for LOINC Short Name
- Whole genome seq analysis
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP248470-9
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | secuenciación del genoma completo |
| nl-NL | Dutch (Netherlands) | volledig genoom sequentie analyse |
| zh-CN | Chinese (China) | 全基因组序列分析 Synonyms: 全（完整、 |
| it-IT | Italian (Italy) | Analisi intera sequenza genoma |
| el-GR | Greek (Greece) | Ανάλυση αλληλουχίας ολόκληρου γονιδιώματος Synonyms: Ανάλυση αλληλουχίας ολόκληρου γονιδιώματος |
LOINC Copyright
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