Tumor mutational landscape in individuals with CMMRD

Whole exome sequencing data from the tumors (n=16) of individuals with constitutional mismatch repair deficiency. Data was aligned to GRCh38.

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Titel Tumor mutational landscape in individuals with CMMRD
Omschrijving

Whole exome sequencing data from the tumors (n=16) of individuals with constitutional mismatch repair deficiency. Data was aligned to GRCh38.
Keywords
Contact points
Contact point 1
URI
Naam
Radboud University Medical Center
Name (translations)
Email
richarda.devoer@radboudumc.nl
Identifier
URL
  1. 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/EGAD50000000113
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
  1. http://publications.europa.eu/resource/authority/data-theme/HEAL
Taal
  1. http://publications.europa.eu/resource/authority/language/ENG
Documentation
Conforms to
Is referenced by
  1. https://doi.org/10.1038/s41467-025-59775-2
Distribution
  1. https://fdp.radboudumc.nl/distribution/cbbbfe46-fbf5-40c1-9570-d149407ac3fd
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 16
Number of records for unique individuals. 16
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
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/95dbd727-2e50-4d8b-92b7-156a2e4f3b22