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LinkML meta cleanup #569

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Jan 21, 2025
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1 change: 1 addition & 0 deletions .gitignore
Original file line number Diff line number Diff line change
Expand Up @@ -19,6 +19,7 @@ publish/**
*.test.xlsx

# IDE and code tools
venv
retold
.idea
.lsp
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1 change: 0 additions & 1 deletion modules/Assay/Parameter.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -184,7 +184,6 @@ enums:
meaning: http://purl.obolibrary.org/obo/OBI_0001852
singleEnd:
description: A library preparation that results in the creation of a library of 5' ends of DNA.
source: Sage Bionetworks
StrandednessEnum:
permissible_values:
FirstStranded:
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22 changes: 13 additions & 9 deletions modules/Data/FileFormat.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -9,10 +9,10 @@ enums:
meaning: http://purl.obolibrary.org/obo/NCIT_C49059
MATLAB data:
description: A MATLAB formatted data file with expected extension “.mat”.
source: Sage Bionetworks
source: https://synapse.org
MATLAB script:
description: A MATLAB script file with expected extension “.m”. Note that files with a “.mat” extension contains MATLAB formatted data.
source: Sage Bionetworks
source: https://synapse.org
NWB:
description: Neurodata Without Borders (NWB) is a data standard for neurophysiology data, designed to store data including from intracellular and extracellular electrophysiology experiments, data from optical physiology experiments, and tracking and stimulus data.
source: https://www.nwb.org/
Expand All @@ -21,10 +21,10 @@ enums:
source: https://nipy.org/nibabel/reference/nibabel.parrec.html
Python script:
description: Python script with expected extension “.py”.
source: Sage Bionetworks
source: https://synapse.org
R script:
description: R script with expected extension “.R”.
source: Sage Bionetworks
source: https://synapse.org
RCC:
description: Reporter Code Count-A data file (.csv) output by the Nanostring nCounter Digital Analyzer, which contains gene sample information, probe information and probe counts.
meaning: http://edamontology.org/format_3580
Expand Down Expand Up @@ -110,13 +110,16 @@ enums:
source: https://cnvkit.readthedocs.io/en/stable/fileformats.html
cram:
description: A CRAM file is a compressed format for storing genomic sequence data.
source: ChatGPT (September 25, 2023 Version)
notes:
- ChatGPT (September 25, 2023 Version)
crai:
description: A CRAI file is an index for a CRAM file, facilitating fast data retrieval.
source: ChatGPT (September 25, 2023 Version)
notes:
- ChatGPT (September 25, 2023 Version)
csi:
description: A CSI file is a compressed sequence index used for efficiently accessing genomic data in large datasets.
source: ChatGPT (September 25, 2023 Version)
notes:
- ChatGPT (September 25, 2023 Version)
csv:
description: Tabular data represented as comma-separated values in a text file
meaning: http://edamontology.org/format_3752
Expand Down Expand Up @@ -225,7 +228,7 @@ enums:
source: https://en.wikipedia.org/wiki/Markdown
mov:
description: A video file format with the .mov extension
meaning: Sage Bionetworks
source: https://synapse.org
MPEG-4:
description: A digital multimedia container format most commonly used to store video and audio.
meaning: http://edamontology.org/format_3997
Expand Down Expand Up @@ -313,7 +316,8 @@ enums:
meaning: https://en.wikipedia.org/wiki/Tar_(computing)
tbi:
description: A TBI file is an index for a TABIX-compressed genomic data file, enabling rapid region-based retrieval.
source: ChatGPT (September 25, 2023 Version)
notes:
- ChatGPT (September 25, 2023 Version)
tif:
description: Tagged Image File Format, abbreviated TIFF or TIF, is a computer file format for storing raster graphics images
meaning: https://en.wikipedia.org/wiki/TIFF
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6 changes: 3 additions & 3 deletions modules/Data/Resource.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -18,14 +18,14 @@ enums:
permissible_values:
experimentalData:
description: Any file derived from or pertaining to a scientific experiment. Experimental data annotations should be applied, possibly disease-related
meaning: Sage Bionetworks
source: https://synapse.org
result:
description: Any file that reports data results. Examples include figures, presentations, analysis, etc.
comments: This resource category is somewhat more general than `report`.
meaning: Sage Bionetworks
source: https://synapse.org
tool:
description: Any file or link that represents a tool, model, or algorithm; the tool annotations could be applied
meaning: Sage Bionetworks
source: https://synapse.org
workflow report:
description: Workflow-generated reports of analysis of primary data, usually created programmatically at completion of workflow step.
report:
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5 changes: 0 additions & 5 deletions modules/Sample/Cell.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -9,7 +9,6 @@ enums:
meaning: https://www.ebi.ac.uk/ols/ontologies/cl/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FCL_0000235
iPSC-derived neuron:
description: ''
meaning: Sage Bionetworks
lymphoblast:
description: Often referred to as a blast cell. Unlike other usages of the suffix -blast a lymphoblast is a further differentiation of a lymphocyte, T- or B-, occasioned by an antigenic stimulus. The lymphoblast usually develops by enlargement of a lymphocyte, active re-entry to the S phase of the cell cycle, mitogenesis and production of much m-RNA and ribosomes.
meaning: https://www.ebi.ac.uk/ols/ontologies/bto/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FBTO_0000772
Expand All @@ -28,7 +27,6 @@ enums:
meaning: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4519016/
monocyte-derived microglia:
description: ''
meaning: Sage Bionetworks
microglia:
description: The small, non-neural, interstitial cells of mesodermal origin that form part of the supporting structure of the central nervous system.
meaning: https://www.ebi.ac.uk/ols/ontologies/bto/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FBTO_0000078
Expand Down Expand Up @@ -73,13 +71,10 @@ enums:
meaning: https://www.ebi.ac.uk/ols/ontologies/bto/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FBTO_0001220
iPSC-derived glia:
description: ''
meaning: Sage Bionetworks
iPSC-derived astrocytes:
description: ''
meaning: Sage Bionetworks
iPSC-derived neuronal progenitor cell:
description: ''
meaning: Sage Bionetworks
oligodendrocyte:
description: A class of large neuroglial (macroglial) cells in the central nervous system. Form the insulating myelin sheath of axons in the central nervous system.
meaning: http://purl.obolibrary.org/obo/CL_0000128
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34 changes: 17 additions & 17 deletions modules/Sample/CellLineModel.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -19,7 +19,7 @@ enums:
description: Cell line generated by Ray Mattingly's lab.
JHU 2-079-PDX:
description: A PDX model derived from JHU NF1 Biobank tumor specimen JHU 2-079.
meaning: Sage Bionetworks
source: https://synapse.org
HEK293 NF1 -/- with R192X mNf1 cDNA:
description: '[From GFF:] This cell line is in development and not comprehensively characterized. Please contact the investigator for more information. HEK293 NF1 -/- with R192X mNf1 cDNA'
icNF98.4c:
Expand All @@ -32,7 +32,7 @@ enums:
meaning: https://web.expasy.org/cellosaurus/CVCL_UI70
icNF99.1:
description: An hTERT-immortalized cutaneous neurofibroma cell line derived from a primary cell culture, developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
cNF00.10a:
description: A primary cutaneous neurofibroma cell line; not broadly available. See the immortalized version (icNF00.10a).
iPSC Y489C; Exon 13 cryptic splice:
Expand Down Expand Up @@ -63,7 +63,7 @@ enums:
description: A primary cutaneous neurofibroma cell line; not broadly available. See the immortalized version (icNF04.9a).
JHU 2-103-PDX:
description: A PDX model derived from JHU NF1 Biobank tumor specimen JHU 2-103.
meaning: Sage Bionetworks
source: https://synapse.org
5PNF_TDiPSsv_PM_6:
description: ''
meaning: https://web.expasy.org/cellosaurus/CVCL_UN14
Expand Down Expand Up @@ -109,7 +109,7 @@ enums:
description: '[From GFF:] This cell line is in development and not comprehensively characterized. Please contact the investigator for more information. Schwann cell NF1 -/- (iPN97.4 #24)'
cNF97.5:
description: A primary cell culture from a cutaneous neurofibroma developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
NCC-MPNST4-C1:
description: ''
meaning: https://web.expasy.org/cellosaurus/CVCL_YU16
Expand All @@ -118,7 +118,7 @@ enums:
meaning: https://www.cellosaurus.org/CVCL_4662
cNF99.1:
description: A primary cell culture from a cutaneous neurofibroma developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
hiPSC:
description: human iPSCs
meaning: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7773355
Expand All @@ -137,12 +137,12 @@ enums:
description: '[From GFF:] iPSC NF1 +/- BJFF.6 bkgd'
JHU 2-079-CL:
description: An MPNST cell line derived from JHU NF1 Biobank tumor specimen JHU 2-079.
meaning: Sage Bionetworks
source: https://synapse.org
cNF97.2b:
description: A primary cutaneous neurofibroma cell line; not broadly available. See the immortalized version (icNF97.2b).
JHU 2-002-CL:
description: An MPNST cell line derived from JHU NF1 Biobank tumor specimen JHU 2-002.
meaning: Sage Bionetworks
source: https://synapse.org
NF1:
description: ''
meaning: https://web.expasy.org/cellosaurus/CVCL_JG80
Expand All @@ -159,7 +159,7 @@ enums:
description: Derived from peripheral sciatic nerve from a donor without neurofibromatosis. No detectable NF1 mutation.
JHU 2-103-CL:
description: An MPNST cell line derived from JHU NF1 Biobank tumor specimen JHU 2-103.
meaning: Sage Bionetworks
source: https://synapse.org
'HEK293 NF1 -/- Exon 17 #A15 G629R cryptic splice':
description: '[From GFF:] HEK293 NF1 -/- Exon 17 #A15 G629R cryptic splice'
Lis42_NF1_1N:
Expand All @@ -169,7 +169,7 @@ enums:
description: '[From GFF:] This cell line is in development and not comprehensively characterized. Please contact the investigator for more information. ELK-TAD Luciferase Reporter HEK293 Stable NF1 -/-'
human foreskin fibroblasts:
description: generic human foreskin fibroblasts, often used as a control cell in toxicology experiments
meaning: Sage Bionetworks
source: https://synapse.org
icNF00.10a:
description: An hTERT-immortalized cutaneous neurofibroma cell line derived from a primary cell culture (cNF00.10a).
HEK293 NF1 -/- with R1947X mNf1 cDNA:
Expand All @@ -185,7 +185,7 @@ enums:
description: '[From GFF:] This cell line is in development and not comprehensively characterized. Please contact the investigator for more information. HEK293 NF1 -/- with R461X mNf1 cDNA'
i28cNF:
description: An hTERT-immortalized cutaneous neurofibroma cell line derived from a primary cell culture, developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
sNF94.3:
description: ''
meaning: https://web.expasy.org/cellosaurus/CVCL_K164
Expand Down Expand Up @@ -215,7 +215,7 @@ enums:
meaning: https://web.expasy.org/cellosaurus/CVCL_5192
M3 MPNST:
description: A patient-derived MPNST cell line
meaning: Sage Bionetworks
source: https://synapse.org
S462.TY:
description: ''
meaning: https://web.expasy.org/cellosaurus/VCL_JK02
Expand Down Expand Up @@ -260,12 +260,12 @@ enums:
meaning: https://web.expasy.org/cellosaurus/CVCL_UI71
i18cNF:
description: An hTERT-immortalized cutaneous neurofibroma cell line derived from a primary cell culture, developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
hTERT SC ipn97.4:
description: Healthy Schwann cells.
i21cNF:
description: An hTERT-immortalized cutaneous neurofibroma cell line derived from a primary cell culture, developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
cNF98.4d:
description: A primary cutaneous neurofibroma cell line; not broadly available. See the immortalized version (icNF98.4d).
28cNF:
Expand All @@ -275,7 +275,7 @@ enums:
meaning: https://web.expasy.org/cellosaurus/CVCL_JK03
cNF18.1a:
description: A primary cell culture from a cutaneous neurofibroma developed by Dr. Peggy Wallace.
meaning: Sage Bionetworks
source: https://synapse.org
Nf1Arg681*/Arg681* ES:
description: '[From GFF:] Nf1Arg681*/Arg681* ES'
GM11601:
Expand Down Expand Up @@ -320,7 +320,7 @@ enums:
meaning: https://web.expasy.org/cellosaurus/CVCL_YU15
JHU 2-002-PDX:
description: A PDX model derived from JHU NF1 Biobank tumor specimen JHU 2-002.
meaning: Sage Bionetworks
source: https://synapse.org
hTERT NF1 ipNF95.11b C:
description: ''
meaning: https://web.expasy.org/cellosaurus/CVCL_UI67
Expand All @@ -341,10 +341,10 @@ enums:
source: https://www.nature.com/articles/s41418-022-00991-4
HS02:
description: 'NF2 schwannoma model'
source: Sage Bionetworks
source: https://synapse.org
HS05:
description: 'NF2 schwannoma model'
source: Sage Bionetworks
source: https://synapse.org
primary cultured fibroblast cell:
description: A primary cultured cell that is derived from fibroblast cell in vivo.
meaning: http://purl.obolibrary.org/obo/CLO_0037301
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5 changes: 0 additions & 5 deletions modules/Sample/Genotype.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -3,18 +3,13 @@ enums:
permissible_values:
'-/-':
description: Homozygous deletion or mutation.
meaning: Sage Bionetworks
'+/-':
description: Heterozygous deletion or mutation
meaning: Sage Bionetworks
'+/+':
description: Homozygous wildtype
meaning: Sage Bionetworks
Unknown:
description: unknown
meaning: Sage Bionetworks
NF1Variant:
permissible_values:
R816X:
description: A pathogenic mutation in the NF1 gene (amino acid nomenclature) leading to a truncated protein
meaning: Sage Bionetworks
2 changes: 1 addition & 1 deletion modules/Sample/SpecimenType.yaml
Original file line number Diff line number Diff line change
Expand Up @@ -76,7 +76,7 @@ enums:

OrganismSubstance:
description: This preferred root in the UBERON ontology is meant to cover organism-produced substances (bodily secretions and excreta) commonly used as assay specimens.
meaning: http://purl.obolibrary.org/obo/UBERON_0000463
# meaning: http://purl.obolibrary.org/obo/UBERON_0000463
permissible_values:
saliva:
description: The watery fluid in the mouth made by the salivary glands. Saliva moistens food to help digestion and it helps protect the mouth against infections.
Expand Down
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