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
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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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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
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In Series
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    Version notes
    Identifier https://ega-archive.org/datasets/EGAD00001004534
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    Conforms to
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    1. https://fdp.radboudumc.nl/distribution/677a6b41-3af5-48fe-a22b-046cc00a354e
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    1. http://data.europa.eu/eli/reg/2025/327/oj
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    1. https://w3id.org/dpv#NonCommercialResearch
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    Health theme
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    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
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    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
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    URI https://fdp.radboudumc.nl/dataset/45b8a7e6-aeeb-48ac-8925-f88e772ca9d3