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 - Sample Mapping

pht005059
Beskrivning

pht005059

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

SUBJID

Datatyp

string

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

SAMPID

Datatyp

string

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

SAMPLE_USE

Datatyp

text

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

Similar models

Subject - Sample Mapping

Name
Typ
Description | Question | Decode (Coded Value)
Datatyp
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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