0 Ratings

ID

45160

Description

Principal Investigator: Mark A. Rubin, MD, Weill Cornell Medical College, New York, NY, USA MeSH: Prostatic Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000311 We have developed FusionSeq to identify fusion transcripts from paired-end RNA-sequencing. FusionSeq includes filters to remove spurious candidate fusions with artifacts such as misalignments or random pairing of transcript fragments and it ranks candidates according to several statistics. It also has a module to identify exact sequences at breakpoint junctions. FusionSeq detected known and novel fusions in a specially sequenced calibration data set, including 8 cancers with and without known rearrangements.

Link

dbGaP study = phs000311

Keywords

  1. 8/28/22 8/28/22 - Simon Heim
  2. 10/12/22 10/12/22 - Adrian Schulz
Copyright Holder

Mark A. Rubin, MD, Weill Cornell Medical College, New York, NY, USA

Uploaded on

October 12, 2022

DOI

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License

Creative Commons BY 4.0

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    dbGaP phs000311 FusionSeq: Finding Fusions with Paired-End RNA-Seq

    Subject age, height, and family history of participants with prostate cancer.

    pht002129
    Description

    pht002129

    De-identified subject ID
    Description

    SUBJID

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C2346787
    UMLS CUI [1,2]
    C2348585
    Case or control [N/A]
    Description

    case_control

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C3274646
    Age in years
    Description

    age

    Data type

    text

    Measurement units
    • Years old
    Alias
    UMLS CUI [1,1]
    C0001779
    Height in feet
    Description

    height

    Data type

    text

    Measurement units
    • Feet
    Alias
    UMLS CUI [1,1]
    C0005890
    Place of birth
    Description

    birthplace

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0032040
    Gender of participant
    Description

    sex

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0079399
    Time interval of drug use
    Description

    TimeIntDrug

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0872371
    Family history
    Description

    family history

    Data type

    text

    Alias
    UMLS CUI [1,1]
    C0241889

    Similar models

    Subject age, height, and family history of participants with prostate cancer.

    Name
    Type
    Description | Question | Decode (Coded Value)
    Data type
    Alias
    Item Group
    pht002129
    SUBJID
    Item
    De-identified subject ID
    text
    C2346787 (UMLS CUI [1,1])
    C2348585 (UMLS CUI [1,2])
    Item
    Case or control [N/A]
    text
    C3274646 (UMLS CUI [1,1])
    Code List
    Case or control [N/A]
    CL Item
    Not applicable (N/A)
    Item
    Age in years
    text
    C0001779 (UMLS CUI [1,1])
    Code List
    Age in years
    CL Item
    Not applicable (N/A)
    Item
    Height in feet
    text
    C0005890 (UMLS CUI [1,1])
    Code List
    Height in feet
    CL Item
    Not available (N/A)
    Item
    Place of birth
    text
    C0032040 (UMLS CUI [1,1])
    Code List
    Place of birth
    CL Item
    United States of America (USA)
    Item
    Gender of participant
    text
    C0079399 (UMLS CUI [1,1])
    Code List
    Gender of participant
    CL Item
    Female (F)
    CL Item
    Male (M)
    Item
    Time interval of drug use
    text
    C0872371 (UMLS CUI [1,1])
    Code List
    Time interval of drug use
    CL Item
    Not applicable (N/A)
    Item
    Family history
    text
    C0241889 (UMLS CUI [1,1])
    Code List
    Family history
    CL Item
    Prostate Cancer (cancer)

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