Tumor sequencing dataset from 17 individuals with biallelic germline pathogenic variants in CHEK2

"This study investigated the molecular landscape of 17 tumors from 9 individuals with biallelic germline pathogenic variants in CHEK2. Tumors included breast and non-breast cancers, and WES and sWGS bam files from the tumors are included in this submission. WES data was aligned to GRCh37 and sWGS data to GRCh38."

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Tumor sequencing dataset from 17 individuals...htts://publications.europa.eu/resource/authority/file-type/BIN
WES data of 17 tumors from 9 individuals that have biallelic germline CHEK2...
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Veld	Waarde
Titel	Tumor sequencing dataset from 17 individuals with biallelic germline pathogenic variants in CHEK2
Omschrijving	"This study investigated the molecular landscape of 17 tumors from 9 individuals with biallelic germline pathogenic variants in CHEK2. Tumors included breast and non-breast cancers, and WES and sWGS bam files from the tumors are included in this submission. WES data was aligned to GRCh37 and sWGS data to GRCh38."
Keywords	Genome Germline CHEK2 deficiency Tumor WES WGS
Contact points	Contact point 1 URI Naam Radboudumc Name (translations) Email richarda.devoer@radboudumc.nl Identifier URL https://ega-archive.org/dacs/EGAC00001001102
Publisher	Publisher 1 URI Naam Radboudumc Name (translations) Email richarda.devoer@radboudumc.nl URL https://radboudumc.nl Type Publisher note Publisher type Identifier https://ror.org/05wg1m734
Creator	Creator 1 URI Naam Radboudumc Name (translations) Email richarda.devoer@radboudumc.nl URL https://radboudumc.nl Type Publisher note Publisher type Identifier https://ror.org/05wg1m734
Landing page
Release date
Modification date
In Series	Radboudumc Cancer Genomics DAC
Versie
Version notes
Identifier	https://ega-archive.org/datasets/EGAD50000000112
Frequency
Provenance
Type	http://publications.europa.eu/resource/authority/dataset-type/STATISTICAL
Temporal coverage
Temporal resolution
Spatial coverage	Spatial coverage 1 URI http://publications.europa.eu/resource/authority/country/NLD Label Geometry Bounding Box Centroid
Spatial resolution in meters
Access rights	http://publications.europa.eu/resource/authority/access-right/NON_PUBLIC
Other identifier
Theme	http://publications.europa.eu/resource/authority/data-theme/HEAL
Taal	http://publications.europa.eu/resource/authority/language/ENG
Documentation
Conforms to
Is referenced by	https://doi.org/10.1093/jncics/pkae044
Distribution	https://fdp.radboudumc.nl/distribution/5b173419-aacf-4a27-abd1-f2fecc3082e9
Sample
Analytics
Applicable legislation	http://data.europa.eu/eli/reg/2025/327/oj
Has version
Code values
Coding system
Purpose	https://w3id.org/dpv#NonCommercialResearch
Health category
Health theme
Legal basis	https://w3c.github.io/dpv/2.0/dpv/modules/legal_basis.html#Consent
Minimum typical age
Maximum typical age
Number of records	33
Number of records for unique individuals.	9
Personal data	https://w3id.org/dpv/pd#DNACode
Publisher note
Publisher type
Trusted Data Holder
Population coverage
Retention period
Health data access body
Qualified relation
Provenance activity
Qualified attribution	Attribution 1 Agent Agent 1 URI Naam Richarda de Voer Name (translations) Email richarda.devoer@radboudumc.nl URL https://www.radboudumc.nl/personen/richarda-de-voer Homepage Type Identifier https://orcid.org/0000-0002-8222-0343 Rol https://standards.iso.org/iso/19115/resources/Codelists/gml/CI_RoleCode.xml#principalInvestigator
Quality annotations
URI	https://fdp.radboudumc.nl/dataset/e3ce5a92-23e8-4e5a-869e-8d64990a1a0a