From f613f581106473b8efb39bd0f46529e3033491c9 Mon Sep 17 00:00:00 2001 From: Miguel Brown Date: Fri, 21 Jul 2023 10:18:30 -0400 Subject: [PATCH 1/8] :hammer: merge pbta studies :wrench: update pbta configs --- STUDY_CONFIGS/oligo_nation_case_meta_config.json | 4 ++-- STUDY_CONFIGS/pbta_all_case_meta_config.json | 11 +++++++++++ STUDY_CONFIGS/pbta_mioncoseq_case_meta_config.json | 4 ++-- 3 files changed, 15 insertions(+), 4 deletions(-) diff --git a/STUDY_CONFIGS/oligo_nation_case_meta_config.json b/STUDY_CONFIGS/oligo_nation_case_meta_config.json index afa7acf..1eb9e98 100644 --- a/STUDY_CONFIGS/oligo_nation_case_meta_config.json +++ b/STUDY_CONFIGS/oligo_nation_case_meta_config.json @@ -183,14 +183,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.oligo_nation_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.oligo_nation_data_clinical_patient", diff --git a/STUDY_CONFIGS/pbta_all_case_meta_config.json b/STUDY_CONFIGS/pbta_all_case_meta_config.json index 7638316..88896a9 100644 --- a/STUDY_CONFIGS/pbta_all_case_meta_config.json +++ b/STUDY_CONFIGS/pbta_all_case_meta_config.json @@ -238,7 +238,18 @@ "table": "bix_genomics_file.sd_8y99qzjj-genomics_file_manifest", "file_type": ["RSEM_gene","annofuse_filtered_fusions_tsv","annotated_public_outputs","ctrlfreec_pval","ctrlfreec_info","ctrlfreec_bam_seg"], "out_file": "pnoc_genomics_file_manifest.txt" + }, + "oligo": { + "table": "bix_genomics_file.sd_bhjxbdqk_oligo-genomics_file_manifest", + "file_type": ["RSEM_gene","annofuse_filtered_fusions_tsv","annotated_public_outputs","ctrlfreec_pval","ctrlfreec_info","ctrlfreec_bam_seg"], + "out_file": "oligo_nation_genomics_file_manifest.txt" + }, + "mioncoseq": { + "table": "bix_genomics_file.sd_bhjxbdqk_mioncoseq-genomics_file_manifest", + "file_type": ["RSEM_gene","annofuse_filtered_fusions_tsv","annotated_public_outputs","ctrlfreec_pval","ctrlfreec_info","ctrlfreec_bam_seg"], + "out_file": "mioncoseq_genomics_file_manifest.txt" } + }, "sample_head": { "table": "template_sample_header.txt" diff --git a/STUDY_CONFIGS/pbta_mioncoseq_case_meta_config.json b/STUDY_CONFIGS/pbta_mioncoseq_case_meta_config.json index fed9bbb..031a3e3 100644 --- a/STUDY_CONFIGS/pbta_mioncoseq_case_meta_config.json +++ b/STUDY_CONFIGS/pbta_mioncoseq_case_meta_config.json @@ -228,14 +228,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.pbta_mioncoseq_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.pbta_mioncoseq_data_clinical_patient", From 59ba9f236de9061918e668072224b32c452fd83d Mon Sep 17 00:00:00 2001 From: Miguel Brown Date: Tue, 22 Aug 2023 11:04:03 -0400 Subject: [PATCH 2/8] :pencil: updated configs --- STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json | 4 ++-- STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json | 4 ++-- STUDY_CONFIGS/chdm_phs001643_2018_case_meta_config.json | 4 ++-- STUDY_CONFIGS/chdm_sd_7spqtt8m_case_meta_config.json | 4 ++-- STUDY_CONFIGS/meningioma_rna_publication_meta_config.json | 4 ++-- STUDY_CONFIGS/open_chordoma_case_meta_config.json | 4 ++-- STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json | 4 ++-- STUDY_CONFIGS/pbta_all_treatment_meta_config.json | 4 ++-- STUDY_CONFIGS/tll_sd_aq9kvn5p_2019_case_meta_config.json | 4 ++-- STUDY_CONFIGS/x01_nbl_16_maris_case_meta_config.json | 4 ++-- 10 files changed, 20 insertions(+), 20 deletions(-) diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json index a365cd8..2b0174e 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json @@ -141,14 +141,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema_cbio.aml_sd_pet7q6f2_2018_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema_cbio.aml_sd_pet7q6f2_2018_data_clinical_patient", diff --git a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json index 6b81fbe..5f5bd4c 100644 --- a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json @@ -178,14 +178,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema_cbio.aml_sd_z6mwd3h0_2018_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema_cbio.aml_sd_z6mwd3h0_2018_data_clinical_patient", diff --git a/STUDY_CONFIGS/chdm_phs001643_2018_case_meta_config.json b/STUDY_CONFIGS/chdm_phs001643_2018_case_meta_config.json index c958a0b..69e44e9 100644 --- a/STUDY_CONFIGS/chdm_phs001643_2018_case_meta_config.json +++ b/STUDY_CONFIGS/chdm_phs001643_2018_case_meta_config.json @@ -226,14 +226,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.chdm_phs001643_2018_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.chdm_phs001643_2018_data_clinical_patient", diff --git a/STUDY_CONFIGS/chdm_sd_7spqtt8m_case_meta_config.json b/STUDY_CONFIGS/chdm_sd_7spqtt8m_case_meta_config.json index 0433783..f0a566a 100644 --- a/STUDY_CONFIGS/chdm_sd_7spqtt8m_case_meta_config.json +++ b/STUDY_CONFIGS/chdm_sd_7spqtt8m_case_meta_config.json @@ -231,14 +231,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.chdm_sd_7spqtt8m_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.chdm_sd_7spqtt8m_data_clinical_patient", diff --git a/STUDY_CONFIGS/meningioma_rna_publication_meta_config.json b/STUDY_CONFIGS/meningioma_rna_publication_meta_config.json index d2a3f7a..885a6cb 100644 --- a/STUDY_CONFIGS/meningioma_rna_publication_meta_config.json +++ b/STUDY_CONFIGS/meningioma_rna_publication_meta_config.json @@ -123,14 +123,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema.delme_lung_mito_rna_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema.delme_lung_mito_rna_data_clinical_patient", diff --git a/STUDY_CONFIGS/open_chordoma_case_meta_config.json b/STUDY_CONFIGS/open_chordoma_case_meta_config.json index b01ebee..6c525ec 100644 --- a/STUDY_CONFIGS/open_chordoma_case_meta_config.json +++ b/STUDY_CONFIGS/open_chordoma_case_meta_config.json @@ -235,14 +235,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema_cbio.open_chordoma_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema_cbio.open_chordoma_data_clinical_patient", diff --git a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json index 5fb1f1a..6773a42 100644 --- a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json +++ b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json @@ -178,14 +178,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema_cbio.os_sd_zxjffmef_2015_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema_cbio.os_sd_zxjffmef_2015_data_clinical_patient", diff --git a/STUDY_CONFIGS/pbta_all_treatment_meta_config.json b/STUDY_CONFIGS/pbta_all_treatment_meta_config.json index c36d701..c5847cc 100644 --- a/STUDY_CONFIGS/pbta_all_treatment_meta_config.json +++ b/STUDY_CONFIGS/pbta_all_treatment_meta_config.json @@ -245,14 +245,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "brownm28_dev_schema_cbio.pbta_all_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "brownm28_dev_schema_cbio.pbta_all_data_clinical_patient", diff --git a/STUDY_CONFIGS/tll_sd_aq9kvn5p_2019_case_meta_config.json b/STUDY_CONFIGS/tll_sd_aq9kvn5p_2019_case_meta_config.json index fed4b32..1c0c60f 100644 --- a/STUDY_CONFIGS/tll_sd_aq9kvn5p_2019_case_meta_config.json +++ b/STUDY_CONFIGS/tll_sd_aq9kvn5p_2019_case_meta_config.json @@ -226,14 +226,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.tll_sd_aq9kvn5p_2019_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.tll_sd_aq9kvn5p_2019_data_clinical_patient", diff --git a/STUDY_CONFIGS/x01_nbl_16_maris_case_meta_config.json b/STUDY_CONFIGS/x01_nbl_16_maris_case_meta_config.json index 02a6275..25dd629 100644 --- a/STUDY_CONFIGS/x01_nbl_16_maris_case_meta_config.json +++ b/STUDY_CONFIGS/x01_nbl_16_maris_case_meta_config.json @@ -220,14 +220,14 @@ } }, "sample_head": { - "table": "bix_workflows.data_clinical_sample_header" + "table": "template_sample_header.txt" }, "sample_file": { "table": "prod_cbio.x01_fy16_nbl_maris_data_clinical_sample", "out_file": "data_clinical_sample.txt" }, "patient_head": { - "table": "bix_workflows.data_clinical_patient_header" + "table": "template_patient_header.txt" }, "patient_file": { "table": "prod_cbio.x01_fy16_nbl_maris_data_clinical_patient", From 994596523e4b612e19a5acc306974a6d41d3e5ca Mon Sep 17 00:00:00 2001 From: Miguel Brown Date: Fri, 25 Aug 2023 11:13:27 -0400 Subject: [PATCH 3/8] :pencil: updated schiffman configs --- .../os_sd_zxjffmef_2015_case_meta_config.json | 2 +- ...s_sd_zxjffmef_2015_data_processing_config.json | 15 +++++---------- 2 files changed, 6 insertions(+), 11 deletions(-) diff --git a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json index 6773a42..14875ca 100644 --- a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json +++ b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json @@ -124,7 +124,7 @@ "type_of_cancer": "os", "short_name": "An Integrated Analysis of Treatment Failure in Pediatric OS", "reference_genome": "hg38", - "display_name": "An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma (Kids First, Provisional)" + "display_name": "Kids First: An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma (phs001714, Provisional)" }, "cases_3way_complete": { "stable_id": "3way_complete", diff --git a/STUDY_CONFIGS/os_sd_zxjffmef_2015_data_processing_config.json b/STUDY_CONFIGS/os_sd_zxjffmef_2015_data_processing_config.json index 9859b6d..b0545f1 100644 --- a/STUDY_CONFIGS/os_sd_zxjffmef_2015_data_processing_config.json +++ b/STUDY_CONFIGS/os_sd_zxjffmef_2015_data_processing_config.json @@ -1,15 +1,11 @@ { "bedtools": "bedtools", "cp_only_script": "/home/ubuntu/tools/kf-cbioportal-etl/scripts/get_cbio_copy_only_num.pl", - "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/GRCh38.84.gtf_genes.bed", - "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_EntrezID.tsv", - "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol.tsv", - "rna_ext_list": { - "expression": "rsem.genes.results.gz", - "fusion": "annoFuse_filter.tsv" - }, + "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/Homo_sapiens.GRCh38.105.chr.gtf_genes.bed", + "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_2021-06-01_EntrezID.tsv", + "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol_2021-06-01.txt", "dna_ext_list": { - "mutation": "consensus_somatic.vep.maf", + "mutation": "consensus_somatic.norm.annot.public.maf", "copy_number": "controlfreec.CNVs.p.value.txt", "seg": "controlfreec.seg" }, @@ -17,14 +13,13 @@ "_comment": "edit the values based on existing/anticipated source file locations, relative to working directory of the script being run", "mafs": { "kf": "annotated_public_outputs", - "header": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/maf_KF_CONSENSUS.txt" + "header": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/maf_KF_CONSENSUS_r105.txt" }, "cnvs": { "pval": "ctrlfreec_pval", "info": "ctrlfreec_info", "seg": "ctrlfreec_bam_seg" } - }, "dl_file_type_list": ["annotated_public_outputs", "ctrlfreec_pval","ctrlfreec_info","ctrlfreec_bam_seg"], From d584c0164267018c7de767f59fe75eb2843b4e97 Mon Sep 17 00:00:00 2001 From: migbro Date: Tue, 29 Aug 2023 16:56:48 +0000 Subject: [PATCH 4/8] :pencil: update name and desc with PI and keywords --- STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json index 14875ca..f84196d 100644 --- a/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json +++ b/STUDY_CONFIGS/os_sd_zxjffmef_2015_case_meta_config.json @@ -118,13 +118,13 @@ }, "study": { "_comment": "see https://docs.cbioportal.org/5.1-data-loading/data-loading/file-formats#cancer-study for detailed specifics", - "description": "Although the survival of children with relapsed osteosarcoma is very poor, little is known about the etiology of treatment failure in this disease. The purpose of this project is to perform whole genome sequencing on serial samples from patients with osteosarcoma obtained before treatment, after treatment, and at relapse in order to identify the mutations and pathways that are drivers of drug resistance. If successful, our results may help identify patients at high risk for treatment failure and may yield new treatments for children who cannot currently be cured. For updates, please see here: Release Notes", + "description": "Although the survival of children with relapsed osteosarcoma is very poor, little is known about the etiology of treatment failure in this disease. The purpose of this project is to perform whole genome sequencing on serial samples from patients with osteosarcoma obtained before treatment, after treatment, and at relapse in order to identify the mutations and pathways that are drivers of drug resistance. If successful, our results may help identify patients at high risk for treatment failure and may yield new treatments for children who cannot currently be cured. Additional keywords: GMKF, KF. For updates, please see here: Release Notes", "groups": "PUBLIC", "cancer_study_identifier": "os_sd_zxjffmef_2015", "type_of_cancer": "os", "short_name": "An Integrated Analysis of Treatment Failure in Pediatric OS", "reference_genome": "hg38", - "display_name": "Kids First: An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma (phs001714, Provisional)" + "display_name": "Kids First: An Integrated Clinical and Genomic Analysis of Treatment Failure in Pediatric Osteosarcoma (phs001714, Onel, Provisional)" }, "cases_3way_complete": { "stable_id": "3way_complete", From 1904c527df2249ae1b8765b0cff41ff1a5de8eca Mon Sep 17 00:00:00 2001 From: migbro Date: Thu, 31 Aug 2023 14:35:20 +0000 Subject: [PATCH 5/8] :pencil further update configs --- .../aml_sd_pet7q6f2_2018_data_processing_config.json | 6 +++--- .../aml_sd_z6mwd3h0_2018_data_processing_config.json | 8 ++++---- 2 files changed, 7 insertions(+), 7 deletions(-) diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json index 92941be..6983dff 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json @@ -1,9 +1,9 @@ { "bedtools": "bedtools", "cp_only_script": "/home/ubuntu/tools/kf-cbioportal-etl/scripts/get_cbio_copy_only_num.pl", - "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/GRCh38.84.gtf_genes.bed", - "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_EntrezID.tsv", - "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol.tsv", + "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/Homo_sapiens.GRCh38.105.chr.gtf_genes.bed", + "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_2021-06-01_EntrezID.tsv", + "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol_2021-06-01.txt", "rna_ext_list": { "expression": "rsem.genes.results.gz", "fusion": "annoFuse_filter.tsv" diff --git a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_data_processing_config.json b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_data_processing_config.json index d795926..ca495d9 100644 --- a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_data_processing_config.json +++ b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_data_processing_config.json @@ -1,9 +1,9 @@ { "bedtools": "bedtools", "cp_only_script": "/home/ubuntu/tools/kf-cbioportal-etl/scripts/get_cbio_copy_only_num.pl", - "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/GRCh38.84.gtf_genes.bed", - "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_EntrezID.tsv", - "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol.tsv", + "bed_genes": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/Homo_sapiens.GRCh38.105.chr.gtf_genes.bed", + "hugo_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/HUGO_2021-06-01_EntrezID.tsv", + "entrez_tsv": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/EntrezGeneId_HugoGeneSymbol_2021-06-01.txt", "rna_ext_list": { "expression": "rsem.genes.results.gz", "fusion": "annoFuse_filter.tsv" @@ -17,7 +17,7 @@ "_comment": "edit the values based on existing/anticipated source file locations, relative to working directory of the script being run", "mafs": { "kf": "annotated_public_outputs", - "header": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/maf_KF_CONSENSUS.txt" + "header": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/maf_KF_CONSENSUS_r105.txt" }, "cnvs": { "pval": "ctrlfreec_pval", From d742352a72531b5c318ce942414fb1844d2f4284 Mon Sep 17 00:00:00 2001 From: migbro Date: Wed, 6 Sep 2023 14:18:35 +0000 Subject: [PATCH 6/8] :pencil: further config updates --- STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json | 4 ++-- STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json | 4 ++-- 2 files changed, 4 insertions(+), 4 deletions(-) diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json index 2b0174e..3713e52 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json @@ -105,13 +105,13 @@ }, "study": { "_comment": "see https://docs.cbioportal.org/5.1-data-loading/data-loading/file-formats#cancer-study for detailed specifics", - "description": "Although myeloid disorders in children may show morphologic similarities to that seen in adults, TARGET AML initiative (Meshinchi, PI) clearly demonstrated that somatic genomic and transcriptome variants are highly distinct in children and young adults, and in fact there are variants that are uniquely restricted to younger children. TARGET AML initiative, helped identify numerous somatic alterations with high therapeutic potential in younger AML patients. Clinical outcome in children with myeloid disorders have remained poor in part due to lack of deep understanding of the genomic makeup of the disease as well as the host. Comprehensive studies of the host and disease may enable more informed therapies in order to optimize targeting the leukemia while minimizing short and long term toxicities, leading to improved survival with minimal morbidities. For updates, please see here: Release Notes", + "description": "Although myeloid disorders in children may show morphologic similarities to that seen in adults, TARGET AML initiative (Meshinchi, PI) clearly demonstrated that somatic genomic and transcriptome variants are highly distinct in children and young adults, and in fact there are variants that are uniquely restricted to younger children. TARGET AML initiative, helped identify numerous somatic alterations with high therapeutic potential in younger AML patients. Clinical outcome in children with myeloid disorders have remained poor in part due to lack of deep understanding of the genomic makeup of the disease as well as the host. Comprehensive studies of the host and disease may enable more informed therapies in order to optimize targeting the leukemia while minimizing short and long term toxicities, leading to improved survival with minimal morbidities. Additional keywords: GMKF, KF. For updates, please see here: Release Notes", "groups": "PUBLIC", "cancer_study_identifier": "aml_sd_pet7q6f2_2018", "type_of_cancer": "aml", "short_name": "Kids First: Myeloid Malignancies", "reference_genome": "hg38", - "display_name": "Kids First: Germline and Somatic Variants in Myeloid Malignancies in Children (Kids First, Provisional)" + "display_name": "Kids First: Germline and Somatic Variants in Myeloid Malignancies in Children (phs002187, Meshinchi, Provisional)" }, "cases_all": { "stable_id": "all", diff --git a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json index 5f5bd4c..13bab5c 100644 --- a/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_z6mwd3h0_2018_case_meta_config.json @@ -118,13 +118,13 @@ }, "study": { "_comment": "see https://docs.cbioportal.org/5.1-data-loading/data-loading/file-formats#cancer-study for detailed specifics", - "description": "Children with Down syndrome (DS), which occurs due to trisomy 21, have a 2000-fold increased risk of atrioventricular septal defects (AVSD) and a 20-fold increased risk of acute lymphoblastic leukemia (ALL), but it is not understood which genetic features of trisomy 21 are responsible for the increased risk. The objectives of this study are to determine the genetic variants underlying AVSD and ALL risk in children with DS, which builds upon our previous work suggesting having an extra copy of chromosome 21 may \"move\" the susceptibility threshold for disease in these children. Insights into the genes that drive DS-AVSD and DS-ALL may have implications for improved genetic counseling, surveillance, clinical management, and treatment strategies for these and other children who may develop AVSD or ALL. For updates, please see here: Release Notes", + "description": "Children with Down syndrome (DS), which occurs due to trisomy 21, have a 2000-fold increased risk of atrioventricular septal defects (AVSD) and a 20-fold increased risk of acute lymphoblastic leukemia (ALL), but it is not understood which genetic features of trisomy 21 are responsible for the increased risk. The objectives of this study are to determine the genetic variants underlying AVSD and ALL risk in children with DS, which builds upon our previous work suggesting having an extra copy of chromosome 21 may \"move\" the susceptibility threshold for disease in these children. Insights into the genes that drive DS-AVSD and DS-ALL may have implications for improved genetic counseling, surveillance, clinical management, and treatment strategies for these and other children who may develop AVSD or ALL. Additional keywords: GMKF, KF. For updates, please see here: Release Notes", "groups": "PUBLIC", "cancer_study_identifier": "aml_sd_z6mwd3h0_2018", "type_of_cancer": "aml", "short_name": "Genomic Analysis of CHD and ALL in Children with Down Syndrome", "reference_genome": "hg38", - "display_name": "Genomic Analysis of Congenital Heart Defects and Acute Lymphoblastic Leukemia in Children with Down Syndrome (Kids First, Provisional)" + "display_name": "Kids First and INCLUDE: Down Syndrome, Heart Defects, and Acute Lymphoblastic Leukemia (phs002330, Lupo, Provisional)" }, "cases_3way_complete": { "stable_id": "3way_complete", From 89d59bdd6c7d7a879276519143d6acbd5148a749 Mon Sep 17 00:00:00 2001 From: Miguel Brown Date: Wed, 6 Sep 2023 10:33:31 -0400 Subject: [PATCH 7/8] :broom: rm deprecated seq center --- STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json | 4 ---- 1 file changed, 4 deletions(-) diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json index 3713e52..1281a63 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json @@ -157,10 +157,6 @@ "genomics_etl": { "table": "brownm28_dev_schema_cbio.aml_sd_pet7q6f2_2018_genomics_etl_file", "out_file": "cbio_file_name_id.txt" - }, - "seq_center": { - "table": "brownm28_dev_schema_cbio.aml_sd_pet7q6f2_2018_sq_info_etl_resource", - "out_file": "seq_center_resource.txt" } } } \ No newline at end of file From dbe5248b17b37cc38e4d84c150ef69e5f62e3837 Mon Sep 17 00:00:00 2001 From: migbro Date: Wed, 6 Sep 2023 14:51:17 +0000 Subject: [PATCH 8/8] :broom: fix deprecated info in config --- .../aml_sd_pet7q6f2_2018_case_meta_config.json | 10 +++++----- .../aml_sd_pet7q6f2_2018_data_processing_config.json | 3 +-- 2 files changed, 6 insertions(+), 7 deletions(-) diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json index 1281a63..90018a3 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_case_meta_config.json @@ -70,13 +70,13 @@ "dtypes": { "fusion": { "ext": "fusions.txt", - "cbio_name": "data_fusions.txt", + "cbio_name": "data_sv.txt", "meta_file_attr": { - "stable_id": "fusion", + "stable_id": "structural_variants", "profile_name": "Predicted RNA fusions", - "profile_description": "PBTA fusion data using arriba and STAR Fusion, annotated and filtered using annoFuse. Also contains DGD custom filtered fusions", - "genetic_alteration_type": "FUSION", - "datatype": "FUSION", + "profile_description": "Fusion data using arriba and STAR Fusion, annotated and filtered using annoFuse", + "genetic_alteration_type": "STRUCTURAL_VARIANT", + "datatype": "SV", "show_profile_in_analysis_tab": "true" } } diff --git a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json index 6983dff..2fefe9a 100644 --- a/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json +++ b/STUDY_CONFIGS/aml_sd_pet7q6f2_2018_data_processing_config.json @@ -15,8 +15,7 @@ "header": "/home/ubuntu/tools/kf-cbioportal-etl/REFS/maf_KF_CONSENSUS.txt" }, "rsem": "RSEM_gene", - "fusion": "annofuse_filtered_fusions_tsv", - "fusion_sq_file": "seq_center_resource.txt" + "fusion": "annofuse_filtered_fusions_tsv" }, "dl_file_type_list": ["RSEM_gene","annofuse_filtered_fusions_tsv"], "ens_gene_list":"/home/ubuntu/tools/kf-cbioportal-etl/REFS/gencode27_gene_list.txt",