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
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URL
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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
    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
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    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