Genomicstudy-example-lungMass

Release 5

Publish-box (todo)

Example GenomicStudy/example-lungMass (Narrative)

Clinical Genomics Work Group

Maturity Level: N/A

Standards Status: Informative

Compartments: Patient

This is the narrative for the resource. See also the XML, JSON or Turtle format. This example conforms to the profile GenomicStudy.

Whole exome sequencing of lung biopsy. 300 genes are examined for simple variants (SNV, MNV, InDel), and 170 genes are also examined for CNVs. For technical reasons, PIK3CB was deemed uncallable.

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.