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Fix biofilter usage of NCBI symbol vs official gene name #11

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van-truong opened this issue Aug 27, 2024 · 0 comments
Open

Fix biofilter usage of NCBI symbol vs official gene name #11

van-truong opened this issue Aug 27, 2024 · 0 comments
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2.4.4 bug Something isn't working

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@van-truong
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From Chris Jones on 8/26/24:

I am using biofilter to annotate build38 SNP positions from genes of interest and noticed something I wanted to bring to your attention. Of the 270 genes I was getting SNPs for 6 of them were invalid to biofilter. The gene names I input are shown below:
MKL2
EBI2
LOC729974
PSFL
FBXL10
C2ORF7

While these are acceptable gene names they are not the "official" gene name on NCBI gene. I went through the 6 using their gene IDs for NCBI:
MKL2 57496
EBI2 1880
LOC729974 729974
PSFL 83464
FBXL10 84678
C2ORF7 84279

The official names for these genes are:
MRTFB
GPR183
RFPL4AL1
APH1B
KDM2B
PRADC1

When biofilter is re-run using the "official name" the appropriate information for these 6 genes is returned. My assumption would be that you are using the 'Symbol' from the NCBI gene API to reference the information for these genes, which is why the input doesnt match. However, the NCBI gene API also has the 'Synonyms' field which should contain the "unofficial" names of the gene. Because this information already exists and is linked to the same gene ID I think it would be an important step to have any gene symbol that is invalid checked for the synonym and return the information for that gene.

@van-truong van-truong added the bug Something isn't working label Aug 27, 2024
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