DataKnowledgeCloudtrainingcoordination

PT DZY020Y1 (Subject)

Taxonomy Id:

Homo sapiens

Taxonomy (Entity type)

Sex:

Female

Subject Sex (Entity type)

Role Id:

single organism

Subject Role (Entity type)

Project:

SD 2CEKQ05V

Project (Entity type)

Granularity:

single organism

Subject Granularity (Entity type)

Disease:

Cornelia de Lange syndrome

Disease (Entity type)

Dcc Asset:

2026Q3 C2M2 datapackage.zip

Processed File (Entity type)

Dcc:

Kids First

DCC (Entity type)

Creation Time:2020-06-17 20:40:48.453981

Results found

Linked to

	Label	Description
	BS 6FMECKWV Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	BS 7FG5NH24 Biosample (Entity type)	A biosample from Kids First produced as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.postCGP.filtered.deNovo.vep.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.variant calling summary metrics File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.html File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.peddy.ped File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.het check.csv File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	eac9f90e-b9e0-4abd-af2f-46c6972e3728.postCGP.filtered.deNovo.vep.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	a6114974-cd68-4acc-8cff-d03430ad7bae.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project
	a6114974-cd68-4acc-8cff-d03430ad7bae.multi.vqsr.filtered.denovo.vep 105.vcf.gz File (Entity type)	A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

Biosample

BS 6FMECKWV

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

Biosample

BS 7FG5NH24

Biosample (Entity type)

A biosample from Kids First produced as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.postCGP.filtered.deNovo.vep.vcf.gz

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.variant calling summary metrics

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.html

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.peddy.ped

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.peddy.het check.csv

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

eac9f90e-b9e0-4abd-af2f-46c6972e3728.postCGP.filtered.deNovo.vep.vcf.gz.tbi

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

a6114974-cd68-4acc-8cff-d03430ad7bae.multi.vqsr.filtered.denovo.vep 105.vcf.gz.tbi

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

File

a6114974-cd68-4acc-8cff-d03430ad7bae.multi.vqsr.filtered.denovo.vep 105.vcf.gz

File (Entity type)

A file from Kids First produced from OBI:0002117 as part of the SD 2CEKQ05V project

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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