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ClinVar #
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Structured data


ClinVar #

인간의 변이와 표현형의 관계에 대한 데이터를 공유하는 데이터베이스로서 환자 샘플에서 발견된 돌연변이와 그 임상적 특징 등에 대한 데이터를 수집한다.

ClinVar Accession and version #

  • Accession number/version number는 각 레코드별로 부여됨 : SCV000000000.0
  • Reference accession number/version은 같은 variation/phenotype에 대한 서브미션 세트로 부여됨 : RCV000000000.0

Identifiers for each variant allele or allele set #

  1. HGVS expressions
  2. Published allele names
  3. Database identifiers

Attributes of each phenotype #

  1. 이름(Name)
  2. 설명(Descriptions)
  3. 특징정의(Defining features)
  4. 발병률/집단(Prevalence/population)
  5. 데이터베이스식별(Database identifiers)

Description of the genotype/phenotype relationship #

  1. Review status of the asserted relationship
  2. Submitter of the assertion
  3. Clinical significance - see full documentation on clinical significance
  4. Summary of the evidence for clinical significance
  5. Number of observations of genotype/allele in those with the phenotype
  6. Number of observations of genotype/allele in those without the phenotype
  7. Family studies
  8. Description of the population sampled
  9. In vitro studies
  10. In silico studies
  11. Animal models
  12. Mode of inheritance
  13. Study design
  14. Citations, including URLs

Incoming Links #

Related Articles #

Related Bioinformaticses #

Suggested Pages #