Difference between revisions of "Biomarkers"
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===Copy number variation=== | ===Copy number variation=== | ||
| + | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:0001019 SO:0001019] | ||
| + | A variation that increases or decreases the copy number of a given region. | ||
====Amplification==== | ====Amplification==== | ||
| + | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:0001880 SO:0001880] | ||
| + | A sequence variant, caused by an alteration of the genomic sequence, where the structural change, an amplification of sequence, is greater than the extent of the underlying genomic features. | ||
| + | |||
====Deletion==== | ====Deletion==== | ||
| + | XREF [http://www.sequenceontology.org/browser/current_release/term/SO:0000159 SO:0000159] | ||
| + | The point at which one or more contiguous nucleotides were excised. | ||
| + | |||
===Insertion=== | ===Insertion=== | ||
Revision as of 23:35, 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
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
XREF SO:0001019 A variation that increases or decreases the copy number of a given region.
Amplification
XREF SO:0001880 A sequence variant, caused by an alteration of the genomic sequence, where the structural change, an amplification of sequence, is greater than the extent of the underlying genomic features.
Deletion
XREF SO:0000159 The point at which one or more contiguous nucleotides were excised.
Insertion
Expression
Overexpression
Underexpression
Normal expression
Rearrangement
Synonyms: fusion, translocation
Methylation
Hypermethylation
Hypomethylation
Positive
Negative
Functional mutations
Gain-of-function
Synonyms: GOF
Activating
Loss-of-function
Synonyms: LOF
Inactivating
Germline
Somatic
Synonyms: tumor, acquired