Skip to content

Commit d21a045

Browse files
Update variant notation docs
1 parent 59d1ca3 commit d21a045

File tree

3 files changed

+28
-10
lines changed

3 files changed

+28
-10
lines changed

docs/variant_notation/continuous.md

Lines changed: 6 additions & 6 deletions
Original file line numberDiff line numberDiff line change
@@ -8,7 +8,7 @@ All continuous notation follows a similar pattern that is loosely defined as:
88
```
99

1010
The `reference feature` would be the gene (chromosome, transcript, etc.) name that the variant
11-
occurs on. The prefix denotes the coordinate type (see [prefixes](#prefixes)). The range is the
11+
occurs on. The prefix denotes the coordinate type (see [prefixes](./coordinate_systems)). The range is the
1212
position or positions of the variant. For a deletion, this is the range that is deleted. For an
1313
insertion, this is the two positions the sequence is inserted between. The sequence element will
1414
depend on the type of variant being described, but often this is the untemplated/inserted sequence.
@@ -23,9 +23,9 @@ specificity.
2323

2424
### Substitution
2525

26-
[Genomic/CDS substitution variants](http://varnomen.hgvs.org/recommendations/DNA/variant/substitution/)
26+
[Genomic/CDS substitution variants](https://hgvs-nomenclature.org/stable/recommendations/DNA/substitution/)
2727
differ from
28-
[protein substitution variants](http://varnomen.hgvs.org/recommendations/protein/variant/substitution/).
28+
[protein substitution variants](https://hgvs-nomenclature.org/stable/recommendations/protein/substitution/).
2929
Therefore examples of both will be given.
3030

3131
A protein missense mutation where G is replaced with D
@@ -42,7 +42,7 @@ chr11:g.1234A>C
4242

4343
### Indel
4444

45-
A [protein deletion](http://varnomen.hgvs.org/recommendations/protein/variant/deletion/) of amino
45+
A [protein deletion](https://hgvs-nomenclature.org/stable/recommendations/protein/deletion/) of amino
4646
acids GH and insertion of three amino acids TTA
4747

4848
```text
@@ -60,7 +60,7 @@ Insertions must be a range to specify between which two coordinates the insertio
6060
avoids the problem
6161
when only a single coordinate is given of which side it is inserted on.
6262

63-
An [protein insertion](http://varnomen.hgvs.org/recommendations/protein/variant/insertion/) of four
63+
An [protein insertion](https://hgvs-nomenclature.org/stable/recommendations/protein/insertion/) of four
6464
amino acids between G123 and H124. The sequence element here is optional and can also be described
6565
as a number if the number of bases inserted is known but the sequence is not given.
6666

@@ -95,7 +95,7 @@ EGFR:p.R10_G14dupRSTGG
9595

9696
### Frameshift
9797

98-
[Frameshifts](http://varnomen.hgvs.org/recommendations/protein/variant/frameshift/) are only
98+
[Frameshifts](https://hgvs-nomenclature.org/stable/recommendations/protein/frameshift/) are only
9999
applicable to variants denoted with protein coordinates. Frameshift notation follows the pattern
100100
below
101101

docs/variant_notation/index.md

Lines changed: 4 additions & 4 deletions
Original file line numberDiff line numberDiff line change
@@ -40,11 +40,11 @@ The expected variant types are given below. Some types are only applicable to ce
4040

4141
### Unsupported HGVS Features
4242

43-
There are a few elements of the [HGVS v15.11](http://varnomen.hgvs.org/) notation that are not yet supported ([contributions are welcome!](https://github.com/bcgsc/pori_graphkb_parser)). These include:
43+
Some elements of the [HGVS v15.11](http://varnomen.hgvs.org/) notation that are not yet supported ([contributions are welcome!](https://github.com/bcgsc/pori_graphkb_parser)). These include, but are not limited to:
4444

45-
- [mosacism](http://varnomen.hgvs.org/recommendations/DNA/variant/complex/)
46-
- [chimerism](http://varnomen.hgvs.org/recommendations/DNA/variant/complex/)
47-
- [RNA variants](http://varnomen.hgvs.org/recommendations/RNA/)
45+
- [methylation](https://hgvs-nomenclature.org/stable/recommendations/DNA/other/?h=methylation)
46+
- [mosaicism](https://hgvs-nomenclature.org/stable/recommendations/DNA/other/?h=mosaicism)
47+
- [chimerism](https://hgvs-nomenclature.org/stable/recommendations/DNA/other/?h=chimerism)
4848
- [conversions](http://varnomen.hgvs.org/recommendations/DNA/variant/conversion/)
4949
- [alleles](http://varnomen.hgvs.org/recommendations/DNA/variant/alleles/)
5050
- [v20 Complex Variants](https://varnomen.hgvs.org/recommendations/DNA/variant/complex/)

docs/variant_notation/split.md

Lines changed: 18 additions & 0 deletions
Original file line numberDiff line numberDiff line change
@@ -50,3 +50,21 @@ a translocation might be described
5050

5151
Above we are describing a translocation from chr8:1234 to chr7:4567 where AAT is the untemplated
5252
sequence inserted between the breakpoints.
53+
54+
55+
### Fusion nomenclature using the ```::``` delimiter
56+
57+
As of v2.1.0 of the [pori_graphkb_parser](https://github.com/bcgsc/pori_graphkb_parser), some support has been added for [VICC](https://fusions.cancervariants.org/en/latest/index.html)-like fusion nomenclature using the ```::``` delimiter.
58+
59+
Fusion variants can follow the pattern below
60+
61+
```text
62+
<feature>:<prefix>.<start_range_pos>_<end_range_pos>::<feature>:<prefix>.<start_range_pos>_<end_range_pos>
63+
```
64+
65+
Previous example ```(EWSR1,FLI1):fusion(e.4,e.7)``` can be written as:
66+
```text
67+
EWSR1:e.?_4::FLI1:e.7_?
68+
```
69+
70+
Note that positions need to be given as a range. Use '?' when the starting and/or the ending position is unknowned.

0 commit comments

Comments
 (0)