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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