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Kori Kuzma korikuzma

  • Nationwide Children's Hospital - IGM
  • Columbus, Ohio
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@korikuzma
korikuzma / gist:50fdb30967882d33dfce8caa03ec26d1
Created June 26, 2024 17:40
Example of oncogenicitySubmission where citation fails validation when including db/id/url all in one record (excluded other fields for brevity)
{
"assertionCriteria": {
"db": "PubMed",
"id": "36063163"
},
"oncogenicitySubmission": [
{
"oncogenicityClassification": {
"citation": [
{
@korikuzma
korikuzma / gist:d90bf9f48936efda0ad6e72f3639581e
Last active June 26, 2024 17:39
Example of oncogenicitySubmission where citation gives error when including only url (excluded other fields for brevity). In this example, it can be processed by ClinVar but errors out.
{
"assertionCriteria": {
"db": "PubMed",
"id": "36063163"
},
"oncogenicitySubmission": [
{
"oncogenicityClassification": {
"citation": [
{
@korikuzma
korikuzma / gist:4385ef29ef76b956c73bdf84f922f5ad
Last active June 26, 2024 17:47
Example of oncogenicitySubmission where citation gives error when including both db/id and url records (excluded other fields for brevity). In this example, it can be processed by ClinVar but errors out.
{
"assertionCriteria": {
"db": "PubMed",
"id": "36063163"
},
"oncogenicitySubmission": [
{
"citation": [
{
"db": "PubMed",
@korikuzma
korikuzma / hackathon_responses.ipynb
Last active June 16, 2023 13:19
Biocommons Hackathon 2023 Ranked Choice Results
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Label Color Hex Description
priority:high #ee0701 High priority
priority:medium #ff5f1f Medium priority
priority:low #fbca04 Low priority
enhancement #00FF7F New feature or request
requirement #DC143C Required
bug #FF0000 Something isn't working
documentation #DEB887 Changes to documentation only
technical debt #6495ED A feature/requirement implemented in a sub-optimal way & must be re-written. Contrast to "cleanup"
@korikuzma
korikuzma / unable_to_normalize_cancer_hotspots_v2
Created December 24, 2021 13:51
Terms variation-normalizer is unable to normalize in cancer hotspots v2
TP53 spliceX187_splicesplice
TP53 spliceX307_splicesplice
MYD88 L265P
TP53 spliceX126_splicesplice
B2M M1R
MET spliceX1010_splicesplice
CDK4 R24L
TP53 spliceX261_splicesplice
TP53 spliceX331_splicesplice
HIST1H3B K28M