Difference between revisions of "Biomarkers"
Jump to navigation
Jump to search
| Line 17: | Line 17: | ||
=Alterations= | =Alterations= | ||
==SNV== | ==SNV== | ||
| + | XREF SO:0001483 | ||
| + | [http://www.sequenceontology.org/browser/current_release/term/SO:0001483 SO:0001483] | ||
| + | |||
| + | SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist. | ||
| + | |||
===Substitution=== | ===Substitution=== | ||
XREF [http://www.sequenceontology.org/browser/current_release/term/SO:1000002 SO:1000002] | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:1000002 SO:1000002] | ||
| Line 23: | Line 28: | ||
==Structural variant== | ==Structural variant== | ||
| + | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:0001537 SO:0001537] | ||
| + | |||
| + | A sequence variant that changes one or more sequence features. | ||
| + | |||
===Copy number variation=== | ===Copy number variation=== | ||
====Amplification==== | ====Amplification==== | ||
Revision as of 23:29, 8 January 2020
Genes
BCR-ABL1
BRAF
EGFR
HER2
PML-RARα
Gene categories
BRCA
HR
Chromosomal regions
1p19q
15;17
17p
Alterations
SNV
XREF SO:0001483 SO:0001483
SNVs are single nucleotide positions in genomic DNA at which different sequence alternatives exist.
Substitution
XREF SO:1000002
A sequence alteration where the length of the change in the variant is the same as that of the reference.
Structural variant
XREF SO:0001537
A sequence variant that changes one or more sequence features.
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