Skip to content

Commit

Permalink
first placeholders for variant types
Browse files Browse the repository at this point in the history
  • Loading branch information
mbaudis committed Mar 18, 2024
1 parent 08fc819 commit 35633ce
Showing 1 changed file with 36 additions and 1 deletion.
37 changes: 36 additions & 1 deletion docs/variant-types/index.md
Original file line number Diff line number Diff line change
@@ -1,13 +1,48 @@
# Variant Types
# Genomic Variation Types

The specific meaning of variation terms varies between different terminologies, file
standards and biomedical domains. Here we address such ambiguities through the documentation
of overarching concepts (e.g. "genomic deletions") and the different flavours of their
manifestations.

!!! info "Under Construction"

For a start please see the previous [Beacon Scouts: Genomic Variants Use Cases & Examples](https://docs.google.com/document/d/1cwwRQ2PtlN1dBffCugdkbSHWCPmLgLkADd-5mu-rVAw/edit).

## Implemented

### Allelic Sequence Variations

==TBD==

### Genomic Deletions

#### Sequence-defined deletions

==TBD==

#### Copy Number Variations (CNVs)

==TBD==

### Genomic Duplications

==TBD==

#### Copy Number Variations (CNVs)

==TBD==

#### Tandem Duplications

==TBD==

### Genomic Fusions



## For Consideration

### Cytogenetic fusions and translocations

==TBD==

0 comments on commit 35633ce

Please sign in to comment.