ID

45530

Beskrivning

Principal Investigator: Priscilla Brastianos, Broad Institute, Cambridge, MA, USA MeSH: Neoplasms https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000730 Brain metastases are the most frequently occurring intracranial tumors in adults. Median survival after the diagnosis of a brain metastasis is in the order of a few months. Despite its large burden of disease and devastating clinical sequelae, we continue to have a limited understanding of the molecular mechanisms driving brain metastasis. We subjected 86 trios consisting of primary tumor, brain metastasis, and matched normal tissue to whole exome sequencing (WES). To analyze the data, we developed novel computational tools to perform an integrative analysis of somatic single nucleotide variants (SSNVs) and somatic copy-number alterations (SCNAs). This analysis allowed us to estimate the clonal architecture of the primary and metastatic samples of each patient, and to reconstruct a phylogenetic tree relating all of the subclones.

Länk

dbGaP study = phs000730

Nyckelord

  1. 2022-12-28 2022-12-28 - Simon Heim
Rättsinnehavare

Priscilla Brastianos, Broad Institute, Cambridge, MA, USA

Uppladdad den

28 december 2022

DOI

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Licens

Creative Commons BY 4.0

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dbGaP phs000730 Genomics of Brain Metastases

Subject - Consent Information

pht005058
Beskrivning

pht005058

Alias
UMLS CUI [1,1]
C3846158
Subject ID
Beskrivning

SUBJID

Datatyp

string

Alias
UMLS CUI [1,1]
C2348585
Consent group as determined by DAC
Beskrivning

CONSENT

Datatyp

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C0441833

Similar models

Subject - Consent Information

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
Alias
Item Group
pht005058
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
Item
Consent group as determined by DAC
text
C0021430 (UMLS CUI [1,1])
C0441833 (UMLS CUI [1,2])
Code List
Consent group as determined by DAC
CL Item
General Research Use (GRU) (1)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])
CL Item
Disease-Specific (Cancer Research and Methods) (DS-CRM) (2)
CL Item
General Research Use (NPU) (GRU-NPU) (3)
C0021430 (UMLS CUI [1,1])
C0242481 (UMLS CUI [1,2])

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