Difference between revisions of "Biomarkers"

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==SNV==
 
==SNV==
 
===Substitution===
 
===Substitution===
 +
XREF [http://www.sequenceontology.org/browser/current_release/term/SO:1000002 SO:1000002]
  
 
==Structural variant==
 
==Structural variant==

Revision as of 23:25, 8 January 2020

Genes

BCR-ABL1

BRAF

EGFR

HER2

Gene categories

BRCA

HR

Chromosomal regions

1p19q

17p

Alterations

SNV

Substitution

XREF SO:1000002

Structural variant

Copy number variation

Amplification

Deletion

Insertion

Expression

Overexpression

Underexpression

Normal expression

Rearrangement

Synonyms: fusion, translocation

Methylation

Hypermethylation

Hypomethylation

Positive

Negative

Germline

Somatic

Synonyms: tumor, acquired

Wild-type