e7c53e49485ab14146a43157c4eba77bda38e7e0 chmalee Fri Jul 24 16:11:34 2020 -0700 Work in progress combination of the clingen dosage tracks diff --git src/hg/makeDb/trackDb/human/trackDb.clinGen.ra src/hg/makeDb/trackDb/human/trackDb.clinGen.ra index 8592c4f..91d387f 100644 --- src/hg/makeDb/trackDb/human/trackDb.clinGen.ra +++ src/hg/makeDb/trackDb/human/trackDb.clinGen.ra @@ -1,61 +1,70 @@ -track clinGenSuper -shortLabel ClinGen -longLabel Clinical Genome Resource (ClinGen) -group phenDis -superTrack on -html clinGen - - track dosageSensitivity - parent clinGenSuper on - shortLabel ClinGen Dosage Sensitivity - longLabel Clinical Genome Resource (ClinGen) Dosage Sensitivity Map +track clinGenComp +shortLabel ClinGen CNV and Dosage +longLabel Clinical Genome Resource (ClinGen) Dosage Sensitivity Map and Structural Variants visibility pack type bigBed 9 + +group phenDis itemRgb on compositeTrack on html clinGenDosage track clinGenHaplo - parent dosageSensitivity - shortLabel ClinGen Haploinsufficiency - longLabel ClinGen Dosage Sensitivity Map - Haploinsufficiency - visibility dense + parent clinGenComp on + shortLabel ClinGen Haploinsufficiency Old + longLabel ClinGen Dosage Sensitivity Map - Haploinsufficiency Old + visibility pack type bigBed 9 + bigDataUrl /gbdb/$D/bbi/clinGen/clinGenHaplo.bb mouseOverField _mouseOver filterValues.haploScore 0|No evidence available,1|Little evidence for dosage pathogenicity,2|Some evidence for dosage pathogenicity,3|Sufficient evidence for dosage pathogenicity,30|Gene associated with autosomal recessive phenotype,40|Dosage sensitivity unlikely filterLabel.haploScore Dosage Sensitivity Score urls haploPMID1="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" haploPMID2="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" haploPMID3="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" track clinGenTriplo - parent dosageSensitivity - shortLabel ClinGen Triplosensitivity - longLabel ClinGen Dosage Sensitivity Map - Triplosensitivity - visibility dense + parent clinGenComp on + shortLabel ClinGen Triplosensitivity Old + longLabel ClinGen Dosage Sensitivity Map - Triplosensitivity Old + visibility pack type bigBed 9 + bigDataUrl /gbdb//$D/bbi/clinGen/clinGenTriplo.bb mouseOverField _mouseOver filterValues.triploScore 0|No evidence available,1|Little evidence for dosage pathogenicity,2|Some evidence for dosage pathogenicity,3|Sufficient evidence for dosage pathogenicity,30|Gene associated with autosomal recessive phenotype,40|Dosage sensitivity unlikely filterLabel.triploScore Dosage Sensitivity Score urls triploPMID1="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" triploPMID2="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" triploPMID3="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" + track clinGenDosage + parent clinGenComp on + shortLabel ClinGen Dosage Sensitivity + longLabel ClinGen Dosage Sensitivity + visibility pack + type bigBed 9 + + bigDataUrl /gbdb//$D/bbi/clinGen/clinGenDosage.bb + mouseOverField _mouseOver + filterValues.dosageType haplo|Likely Haplosensitive (Haploinsufficiency score >= 2 and Triplosensitivity score < 2),triplo|Likely Triplosensitive (Triplosensitivity score >= 2 and Haploinsufficiency score < 2),both|Haplo and Triplo Sensitive (Both scores >= 2),none|Little to no evidence for dosage sensitivity (Both scores < 2) + filterLabel.dosageType Type of dosage sensitivity + filterValues.haploScore 0|0 - No evidence available,1|1 - Little evidence for dosage pathogenicity,2|2 - Some evidence for dosage pathogenicity,3|3 - Sufficient evidence for dosage pathogenicity,30|30 - Gene associated with autosomal recessive phenotype,40|40 - Dosage sensitivity unlikely + filterLabel.haploScore Haplosensitivity Score + filterValues.triploScore 0|0 - No evidence available,1|1 - Little evidence for dosage pathogenicity,2|2 - Some evidence for dosage pathogenicity,3|3 - Sufficient evidence for dosage pathogenicity,30|30 - Gene associated with autosomal recessive phenotype,40|40 - Dosage sensitivity unlikely + filterLabel.triploScore Triplosensitivity Score + urls clinGenUrl="$$" haploPMID1="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" haploPMID2="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" haploPMID3="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" triploPMID1="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" triploPMID2="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" triploPMID3="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" + track clinGenCnv - parent clinGenSuper off + parent clinGenComp on shortLabel ClinGen Structural Variants longLabel Clinical Genome Resource (ClinGen) Structural Variants html clinGenSv type bigBed 9 + itemRgb on visibility dense mergeSpannedItems off bigDataUrl /gbdb/$D/bbi/clinGen/clinGenCnv.bb mouseOverField _mouseOver filterByRange.size on filterLabel.size Variant Size filterValues.variantType copy_number_loss|loss,copy_number_gain|gain filterLabel.variantType Variant Type filterValues.clinicalInterpretation Pathogenic|pathogenic,Benign|benign filterLabel.clinicalInterpretation Clinical Significance url https://www.ncbi.nlm.nih.gov/dbvar/variants/$$ urlLabel NCBI DbVar: urls pubMed="https://pubmed.ncbi.nlm.nih.gov/$$/?from_single_result=$$&expanded_search_query=$$" clinGenId="$$"