LP248469-1
Whole exome sequence analysis
Active
Description
Whole-exome sequencing (WES) is targeted sequence analysis of the protein-coding region of the human genome. The exome represents less than 2% of the genome but is estimated to contain about 85% of known disease-related variants. PMID: 19861545 Variant types include single nucleotide variants (SNVs), small DNA insertions or deletions (indels), copy number variants (CNVs), or other structural variants (SVs). PMID: 25288881 WES and whole-genome sequencing (WGS) [LOINC: 86206-0] are performed to identify the cause of heritable diseases and for various other applications, including population genetics and cancer studies. Sequencing only the coding regions of the genome is currently less expensive than WGS since less genetic material is sequenced. Source: Regenstrief LOINC
Basic Part Properties
- Part Display Name
- Whole exome sequence analysis
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2017-03-08
- Construct for LOINC Short Name
- Whole exome 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=LP248469-1
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | secuenciación del exoma completo |
| zh-CN | Chinese (China) | 全外显子组序列分析 Synonyms: 全（完整、 |
| it-IT | Italian (Italy) | Analisi intera sequenza esoma |
| nl-NL | Dutch (Netherlands) | volledig exoom sequentie analyse |
LOINC Copyright
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