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."

Данные и Ресурсы

Дополнительная информация

Поле Величина
Заголовок Tumor sequencing dataset from 17 individuals with biallelic germline pathogenic variants in CHEK2
Описание

"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
Contact points
Contact point 1
URI
Имя
Radboudumc
Name (translations)
Email
richarda.devoer@radboudumc.nl
Identifier
URL
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Publisher
Publisher 1
URI
Имя
Radboudumc
Name (translations)
Email
richarda.devoer@radboudumc.nl
URL
https://radboudumc.nl
Тип
Publisher note
Publisher type
Identifier
https://ror.org/05wg1m734
Creator
Creator 1
URI
Имя
Radboudumc
Name (translations)
Email
richarda.devoer@radboudumc.nl
URL
https://radboudumc.nl
Тип
Publisher note
Publisher type
Identifier
https://ror.org/05wg1m734
Landing page
Release date
Modification date
In Series
    Версия
    Version notes
    Identifier https://ega-archive.org/datasets/EGAD50000000112
    Frequency
    Provenance
    Тип 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
    Лейбл
    Geometry
    Bounding Box
    Centroid
    Spatial resolution in meters
    Access rights http://publications.europa.eu/resource/authority/access-right/NON_PUBLIC
    Other identifier
    Theme
    1. http://publications.europa.eu/resource/authority/data-theme/HEAL
    Язык
    1. http://publications.europa.eu/resource/authority/language/ENG
    Documentation
    Conforms to
    Is referenced by
    1. https://doi.org/10.1093/jncics/pkae044
    Distribution
    1. https://fdp.radboudumc.nl/distribution/5b173419-aacf-4a27-abd1-f2fecc3082e9
    Sample
    Analytics
    Applicable legislation
    1. http://data.europa.eu/eli/reg/2025/327/oj
    Has version
    Code values
    Coding system
    Purpose
    1. https://w3id.org/dpv#NonCommercialResearch
    Health category
    Health theme
    Legal basis
    1. 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
    1. 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
    Имя
    Richarda de Voer
    Name (translations)
    Email
    richarda.devoer@radboudumc.nl
    URL
    https://www.radboudumc.nl/personen/richarda-de-voer
    Homepage
    Тип
    Identifier
    https://orcid.org/0000-0002-8222-0343
    Роль
    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