ID

45530

Beschrijving

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.

Link

dbGaP study = phs000730

Trefwoorden

  1. 28-12-22 28-12-22 - Simon Heim
Houder van rechten

Priscilla Brastianos, Broad Institute, Cambridge, MA, USA

Geüploaded op

28 december 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000730 Genomics of Brain Metastases

Subject - Sample Mapping

pht005059
Beschrijving

pht005059

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

SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
Sample ID
Beschrijving

SAMPID

Datatype

string

Alias
UMLS CUI [1,1]
C1299222
Sample Use
Beschrijving

SAMPLE_USE

Datatype

text

Alias
UMLS CUI [1,1]
C2347026
UMLS CUI [1,2]
C1524063

Similar models

Subject - Sample Mapping

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht005059
C3846158 (UMLS CUI [1,1])
SUBJID
Item
Subject ID
string
C2348585 (UMLS CUI [1,1])
SAMPID
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 exome sequencing (Seq_DNA_WholeExome)
C3640077 (UMLS CUI [1,1])

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