ID

45399

Beschrijving

Principal Investigator: John Allman, PhD, California Institute of Technology, Pasadena, CA, USA MeSH: Autism https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000609 RNA-Seq studies of Gene Expression in Cells and Networks in FI (fronto-insular) and AC (anterior cingulate) cortex in Autism. We seek to understand the cellular bases of autism by using a new technology, RNA-Seq, to determine differences in gene expression in autopsy brains of subjects with well described autism versus age and sex matched neurotypical individuals. We have investigated two specific cortical areas involved in self-awareness and social reciprocity which are abnormal in autism and have found increased expression in a network of genes related to inflammation in autism group A, whereas the remaining cases, autism group B, have increased expression in a network of genes related to synapses. The current dbGaP study release includes RNA sequencing and phenotype data of n=27 subjects of African - American, Caucasian, or Hispanic origin.

Link

dbGaP study = phs000609

Trefwoorden

  1. 15-11-22 15-11-22 - Simon Heim
Houder van rechten

John Allman, PhD, California Institute of Technology, Pasadena, CA, USA

Geüploaded op

15 november 2022

DOI

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Licentie

Creative Commons BY 4.0

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dbGaP phs000609 RNA-Seq studies of Gene Expression in Cells and Networks in FI and ACC in Autism

Subject - Consent - Affection Status Information

pht003283
Beschrijving

pht003283

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

SUBJID

Datatype

string

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

CONSENT

Datatype

text

Alias
UMLS CUI [1,1]
C0021430
UMLS CUI [1,2]
C1257890
Source repository where subject originates
Beschrijving

SUBJ_SOURCE

Datatype

string

Alias
UMLS CUI [1,1]
C0449416
UMLS CUI [1,2]
C3847505
Subject ID used in the Source Repository
Beschrijving

SOURCE_SUBJID

Datatype

string

Alias
UMLS CUI [1,1]
C2348585
UMLS CUI [1,2]
C3847505
UMLS CUI [1,3]
C0449416
Case control status of the subject
Beschrijving

AFFECTION_STATUS

Datatype

text

Alias
UMLS CUI [1,1]
C3274646

Similar models

Subject - Consent - Affection Status Information

Name
Type
Description | Question | Decode (Coded Value)
Datatype
Alias
Item Group
pht003283
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])
C1257890 (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])
SUBJ_SOURCE
Item
Source repository where subject originates
string
C0449416 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
SOURCE_SUBJID
Item
Subject ID used in the Source Repository
string
C2348585 (UMLS CUI [1,1])
C3847505 (UMLS CUI [1,2])
C0449416 (UMLS CUI [1,3])
Item
Case control status of the subject
text
C3274646 (UMLS CUI [1,1])
Code List
Case control status of the subject
CL Item
Control (1)
C3274648 (UMLS CUI [1,1])
CL Item
Case (2)
C3274647 (UMLS CUI [1,1])

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