Whole-exome sequencing of NTHL1 deficient tumors

Whole exome sequencing of 17 tumors from 12 different individuals with biallelic germline NTHL1 mutations from 9 different tissue types. Provided are 17 bam files which are mapped to human genome version GRCh37.

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Titel Whole-exome sequencing of NTHL1 deficient tumors
Omschrijving

Whole exome sequencing of 17 tumors from 12 different individuals with biallelic germline NTHL1 mutations from 9 different tissue types. Provided are 17 bam files which are mapped to human genome version GRCh37.

Keywords
Contact points
Contact point 1
URI
Naam
Radboudumc
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/EGAD00001004534
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
Distribution
  1. https://fdp.radboudumc.nl/distribution/677a6b41-3af5-48fe-a22b-046cc00a354e
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 17
Number of records for unique individuals. 12
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/45b8a7e6-aeeb-48ac-8925-f88e772ca9d3