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CNA Gene Merge Tool:CNA Gene Merge Tool cmo-pipelines#653
Script that will take a CNA file and perform the following gene merges:
CDKN2Ap16/14 -> CDKN2A
MLLs -> KMTs (MLL, MLL2, MLL3 and MLL4 -> KMT2A KMT2B KMT2C KMT2D)
FAM123B -> AMER1
MYCL1 -> MYCL
Remove duplicate variants from MAF
Script to remove duplicate maf records based on the 8 key columns (Entrez_Gene_Id, Chromosome, Start_Position, End_Position, Variant_Classification, Tumor_Seq_Allele2, Tumor_Sample_Barcode, HGVSp_Short)
Calculates VAF for each record and picks the record with high VAF
Formula for VAF = t_alt_count / (t_ref_count + t_alt_count)
Vital status location changeGENIE submission process - vital status location change cmo-pipelines#657
Patient vital status attributes were moved from the patient file into vital_status.txt. Since they GENIE has reversed that decision and now wants vital status information back in the patient clinical file.
Change value for clinical attributes with no valueGENIE submission process - change value for clinical attributes with no value. cmo-pipelines#656
AGE_AT_SEQ_REPORT, ONCOTREE_CODE, BIRTH_YEAR, YEAR_DEATH, YEAR_CONTACT, INT_CONTACT, INT_DOD cannot be NA or blank. All attribute values should be "Unknown" when the patient/attribute or sample/attribute pair is missing a value.
Also, for attributes that take on NAACR values, like SEX, PRIMARY_RACE, SECONDARY_RACE, TERTIARY_RACE, ETHNICITY, they should take on the NAACR value for NA - (SEX = 9, RACE = 99, ETHNICITY = 9)
upload of genie study data (10.x series) - post-processing can be automated for data corrections
also involves fix to angelica's python script referenced here:
subset script for genie outputs incomplete patient clinical data#258
@ao508 may give pointer to script location
PR: knowledgesystems/cmo-pipelines#819
Fixes made:
CNA Gene Merge Tool: CNA Gene Merge Tool cmo-pipelines#653
Script that will take a CNA file and perform the following gene merges:
CDKN2Ap16/14 -> CDKN2A
MLLs -> KMTs (MLL, MLL2, MLL3 and MLL4 -> KMT2A KMT2B KMT2C KMT2D)
FAM123B -> AMER1
MYCL1 -> MYCL
Remove duplicate variants from MAF
Script to remove duplicate maf records based on the 8 key columns (Entrez_Gene_Id, Chromosome, Start_Position, End_Position, Variant_Classification, Tumor_Seq_Allele2, Tumor_Sample_Barcode, HGVSp_Short)
Calculates VAF for each record and picks the record with high VAF
Formula for VAF = t_alt_count / (t_ref_count + t_alt_count)
Missing patient ids in patient file GENIE submission process - patient ids with no attributes are missing in patient file. cmo-pipelines#654
Patients that have no attributes only appear in the sample clinical data file.
Vital status location change GENIE submission process - vital status location change cmo-pipelines#657
Patient vital status attributes were moved from the patient file into vital_status.txt. Since they GENIE has reversed that decision and now wants vital status information back in the patient clinical file.
Change value for clinical attributes with no value GENIE submission process - change value for clinical attributes with no value. cmo-pipelines#656
AGE_AT_SEQ_REPORT, ONCOTREE_CODE, BIRTH_YEAR, YEAR_DEATH, YEAR_CONTACT, INT_CONTACT, INT_DOD cannot be NA or blank. All attribute values should be "Unknown" when the patient/attribute or sample/attribute pair is missing a value.
Also, for attributes that take on NAACR values, like SEX, PRIMARY_RACE, SECONDARY_RACE, TERTIARY_RACE, ETHNICITY, they should take on the NAACR value for NA - (SEX = 9, RACE = 99, ETHNICITY = 9)
Gene panel names missing prefix in clinical file GENIE submission process - gene panel names missing prefix in clinical file. cmo-pipelines#655
In the "Sequence Assay ID" column of the data_clinical_sample.txt file, IMPACT panel names should be prefixed with an "MSK-".
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