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--- | ||
- label: "SNV Example" | ||
note: "Example for specific EIF4A1 mutation" | ||
description: | | ||
This example shows a core Beacon query, against a specific | ||
mutation in the EIF4A1 gene, in the DIPG childhood brain tumor dataset. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000017.11" | ||
start: | ||
defaultValue: 7577121 | ||
alternateBases: | ||
defaultValue: "A" | ||
referenceBases: | ||
defaultValue: "G" | ||
- label: "SNV Range Example" | ||
note: "Example for EIF4A1 transcript region matches (precise variants)" | ||
description: > | ||
As in the standard SNV query, this example shows a Beacon query against mutations in the EIF4A1 gene in the DIPG childhood brain tumor dataset. However, this range + wildcard query will return any variant with alternate bases (indicated through "N"). | ||
Since parameters will be interpreted using an "AND" paradigm, either <i>Alternate Bases</i> OR <i>Variant Type</i> should be specified. The exact variants which were being found can be retrieved through the variant handover [H—>O] link. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000017.11" | ||
start: | ||
defaultValue: 7572826 | ||
end: | ||
defaultValue: 7579005 | ||
variantType: | ||
defaultValue: "" | ||
alternateBases: | ||
defaultValue: "" | ||
referenceBases: | ||
defaultValue: "" | ||
- label: "CDKN2A Deletion Example" | ||
note: "Example for focal CDKN2A deletion matches." | ||
description: | | ||
This example shows the query for CNV deletion variants overlapping the CDKN2A gene's coding region with at least a single base, but limited to "highly focal" hits (here i.e. <= ~1Mbp in size) in Glioblastoma samples. The query can be modified e.g. through changing the position parameters or diagnosis. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000009.12" | ||
start: | ||
defaultValue: "21500001-21975098" | ||
end: | ||
defaultValue: "21967753-22500000" | ||
variantType: | ||
defaultValue: "EFO:0030067" | ||
bioontology: | ||
defaultValue: ["NCIT:C3058"] | ||
- label: "MYC Duplication" | ||
note: "Example for focal MYC Duplications." | ||
description: | | ||
The example parameters will select samples with a continuous, focal duplication of the complete MYC coding region. The serarch will be limited to neoplastic samples (EFO:0009656). | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000008.11" | ||
start: | ||
defaultValue: "124000000-127736593" | ||
end: | ||
defaultValue: "127740957-130000000" | ||
variantType: | ||
defaultValue: "EFO:0030070" | ||
materialtype: | ||
defaultValue: "EFO:0009656" |
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--- | ||
note: "" | ||
label: "" | ||
description: "" | ||
parameters: | ||
datasetIds: | ||
defaultValue: ["progenetix"] | ||
isHidden: true | ||
cohorts: | ||
defaultValue: ["pgx:cohort-DIPG"] | ||
isHidden: true | ||
assemblyId: | ||
defaultValue: "GRCh38" | ||
isHidden: true | ||
end: | ||
isHidden: true | ||
variantType: | ||
isHidden: true |
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--- | ||
- label: "CDKN2A Deletion Example" | ||
note: "Example for focal CDKN2A deletion matches." | ||
description: | | ||
This example shows the query for CNV deletion variants overlapping the | ||
CDKN2A gene's coding region with at least a single base, but limited | ||
to "highly focal" hits (here i.e. <= ~1Mbp in size) in Glioblastoma samples. The query can be modified e.g. through changing the position parameters or diagnosis. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000009.12" | ||
start: | ||
defaultValue: "21500001-21975098" | ||
end: | ||
defaultValue: "21967753-22500000" | ||
variantType: | ||
defaultValue: "EFO:0030067" | ||
bioontology: | ||
defaultValue: ["NCIT:C3058"] | ||
- label: "MYC Duplication" | ||
note: "Example for focal MYC Duplications." | ||
description: | | ||
The example parameters will select samples with a continuous, focal duplication of the complete MYC coding region. The serarch will be limited to neoplastic samples (EFO:0009656). | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000008.11" | ||
start: | ||
defaultValue: "124000000-127736593" | ||
end: | ||
defaultValue: "127740957-130000000" | ||
variantType: | ||
defaultValue: "EFO:0030070" | ||
materialtype: | ||
defaultValue: "EFO:0009656" |
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--- | ||
note: "" | ||
label: "" | ||
description: "" | ||
parameters: | ||
datasetIds: | ||
defaultValue: ["progenetix"] | ||
isHidden: true | ||
cohorts: | ||
defaultValue: ["pgx:cohort-TCGA"] | ||
# isHidden: true | ||
assemblyId: | ||
isHidden: true | ||
referenceName: | ||
placeholder: "9" | ||
start: | ||
placeholder: "19000001-21975098" | ||
end: | ||
placeholder: "21967753-24000000" | ||
variantType: | ||
placeholder: "EFO:0030067" | ||
alternateBases: | ||
placeholder: "" | ||
isHidden: true | ||
referenceBases: | ||
placeholder: "" | ||
isHidden: true | ||
accessid: | ||
isHidden: true | ||
sex: | ||
placeholder: "" | ||
materialtype: | ||
placeholder: "EFO:0009656" #"EFO:0009656" |
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--- | ||
- label: "CDKN2A Deletion Example" | ||
note: "Example for focal CDKN2A deletion matches." | ||
description: | | ||
This example shows the query for CNV deletion variants overlapping the | ||
CDKN2A gene's coding region with at least a single base, but limited | ||
to "highly focal" hits (here i.e. <= ~1Mbp in size). The query can be modified e.g. through changing the position parameters or diagnosis. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000009.12" | ||
start: | ||
defaultValue: "21500001-21975098" | ||
end: | ||
defaultValue: "21967753-22500000" | ||
variantType: | ||
defaultValue: "EFO:0030067" | ||
bioontology: | ||
defaultValue: ["NCIT:C3058"] | ||
- label: "MYC Duplication" | ||
note: "Example for focal MYC Duplications." | ||
description: | | ||
The example parameters will select samples with a continuous, focal duplication | ||
of the complete MYC coding region. The serarch will be limited to "pgx:icdom-80463" | ||
(i.e. ICD-O 3 8046/3, Non-small cell carcinoma). | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000008.11" | ||
start: | ||
defaultValue: "124000000-127736593" | ||
end: | ||
defaultValue: "127740957-130000000" | ||
variantType: | ||
defaultValue: "EFO:0030070" | ||
bioontology: | ||
defaultValue: ["pgx:icdom-80463"] | ||
- label: "TP53 Del. in Cell Lines" | ||
note: "Example for TP53 deletion" | ||
description: >- | ||
Query example for an "any overlap", focal deletion in TP53 where the | ||
search will be limited to cell lines, searched with limit to the "EFO:0030035" | ||
material code. | ||
parameters: | ||
referenceName: | ||
defaultValue: "refseq:NC_000017.11" | ||
start: | ||
defaultValue: "5000000-7676592" | ||
end: | ||
defaultValue: "7669608-10000000" | ||
variantType: | ||
defaultValue: "EFO:0030067" | ||
freeFilters: | ||
defaultValue: "EFO:0030035" | ||
- label: "K-562 Cell Line" | ||
note: "Instances of K-562 and daughter cell lines, searched by Cellosaurus id" | ||
description: | | ||
The query retrieves all instances of K-562 and derived cell lines | ||
using the "cellosaurus:CVCL_0004" identifier. This is an example for a | ||
pure "non-variant" query. | ||
parameters: | ||
referenceName: | ||
defaultValue: "" | ||
start: | ||
defaultValue: "" | ||
end: | ||
defaultValue: "" | ||
variantType: | ||
defaultValue: "" | ||
referenceid: | ||
defaultValue: ["cellosaurus:CVCL_0004"] |
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@@ -0,0 +1,33 @@ | ||
--- | ||
note: "" | ||
label: "" | ||
description: "" | ||
parameters: | ||
datasetIds: | ||
defaultValue: ["progenetix"] | ||
isHidden: true | ||
cohorts: | ||
defaultValue: ["pgx:cohort-arraymap"] | ||
isHidden: true | ||
assemblyId: | ||
isHidden: true | ||
referenceName: | ||
placeholder: "9" | ||
start: | ||
placeholder: "19000001-21975098" | ||
end: | ||
placeholder: "21967753-24000000" | ||
variantType: | ||
placeholder: "EFO:0030067" | ||
alternateBases: | ||
placeholder: "N" | ||
isHidden: true | ||
referenceBases: | ||
placeholder: "" | ||
isHidden: true | ||
accessid: | ||
isHidden: true | ||
sex: | ||
placeholder: "" | ||
materialtype: | ||
placeholder: "" #"EFO:0009656" |
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