Open ibrahimkurt opened 1 year ago
Example 2:
When we run this another BRAF
entry with a missense mutation in this MAF file via mafannotator.py
script, -q HGVSp
, -q HGVSp_Short
, and -q Genomic_Change
returns conflicting different results:
Annotation by Genomic_Change
returns Likely Oncogenic
.
Annotation by HGVSp
returns Unknown
.
Annotation by HGVSp_Short
returns Unknown
.
It seems like the correct call is Likely Oncogenic
w/ drug recommendations as shown here: https://www.oncokb.org/gene/BRAF/L505F
The question is what is the reason for the conflict between annotations by HGVSp
, HGVSp_Short
and Genomic_Change
?
Example 1:
When we run this
BRAF
entry with an insertion mutation in this MAF file viamafannotator.py
script,-q HGVSp
,-q HGVSp_Short
, and-q Genomic_Change
returns conflicting different results:Annotation by
Genomic_Change
returnsUnknown
. Annotation byHGVSp
returnsLikely Oncogenic
. Annotation byHGVSp_Short
returnsLikely Oncogenic
.It seems like the correct call is
Likely Oncogenic
w/ drug recommendations as shown here: https://www.oncokb.org/gene/BRAF/G506_S507insISQThe question is what is the reason for the conflict between annotations by
HGVSp
,HGVSp_Short
andGenomic_Change
?