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ID

45421

Beschreibung

Principal Investigator: Winnie S. Liang, PhD, Translational Genomics Research Institute, Phoenix, AZ, USA MeSH: Chromosome Breakpoints,Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000646 In this study, we hypothesize that shallow long insert whole genome sequencing (LI-WGS) increases our power for detecting breakpoints compared to shallow short insert WGS. We performed a priori analyses to demonstrate the benefits of LI-WGS, developed a long insert library preparation protocol based off Illumina's protocol, and compared LI-WGS against short insert WGS on test samples. We then used long insert WGS to identify translocations and copy number changes in tumor and germline samples collected from cancer patients with different malignancies.

Link

dbGaP-study=phs000646

Stichworte

  1. 25.11.22 25.11.22 - Chiara Middel
Rechteinhaber

Winnie S. Liang, PhD, Translational Genomics Research Institute, Phoenix, AZ, USA

Hochgeladen am

25. November 2022

DOI

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Lizenz

Creative Commons BY 4.0

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    dbGaP phs000646 Breakpoint Detection Using Long Insert Whole Genome Sequencing

    This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

    pht003435
    Beschreibung

    pht003435

    Alias
    UMLS CUI [1,1]
    C3846158 (Other Coding)
    LOINC
    LA4728-7
    Subject ID
    Beschreibung

    SUBJID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C2348585 (Clinical Trial Subject Unique Identifier)
    Sample ID
    Beschreibung

    SAMPLE_ID

    Datentyp

    string

    Alias
    UMLS CUI [1,1]
    C1299222 (Sample identification number)
    SNOMED
    372274003
    Sample Use
    Beschreibung

    SAMPLE_USE

    Datentyp

    text

    Alias
    UMLS CUI [1,1]
    C2347026 (Biospecimen)
    UMLS CUI [1,2]
    C1524063 (Use of)
    SNOMED
    260676000

    Ähnliche Modelle

    This data table contains mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs. The data table also includes sample use.

    Name
    Typ
    Description | Question | Decode (Coded Value)
    Datentyp
    Alias
    Item Group
    pht003435
    C3846158 (UMLS CUI [1,1])
    SUBJID
    Item
    Subject ID
    string
    C2348585 (UMLS CUI [1,1])
    SAMPLE_ID
    Item
    Sample ID
    string
    C1299222 (UMLS CUI [1,1])
    Item
    Sample Use
    text
    C2347026 (UMLS CUI [1,1])
    C1524063 (UMLS CUI [1,2])
    Code List
    Sample Use
    CL Item
    Whole genome sequencing data available through SRA (WGS_SRA)
    C3640076 (UMLS CUI [1,1])

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