2024DataRelease_WholeExomeSeq_Rawfastq
syn53132831
Whole exome sequencing of the JHU Biobank cohort comprising of 68 individuals and 7 labeled tumor types.
Created By
Jineta Banerjee jineta.banerjee
title: Whole exome sequencing of Johns Hopkins NF1 Biospecimen Repository cohort
funder: NTAP
series: None
creator: NF-OSI
license: UNKNOWN
species: Homo sapiens
studyId: syn4939902
ageGroup: Child Adolescent Adult
dataType: nucleic acid sequence record
keywords: WES raw fastq NF1
accessType: Public Access
contributor: NF-OSI
description: Whole exome sequencing of 68 patients, with multiple primary tumor types and control samples, from The Johns Hopkins NF1 Biospecimen Repository.
diseaseFocus: Neurofibromatosis type 1
versionLabel: croissant update
fundingAgency: NTAP
manifestation: Plexiform Neurofibroma Malignant Peripheral Nerve Sheath Tumor (MPNST) Atypical Neurofibroma Cutaneous Neurofibroma
specimenCount: 184
yearPublished: 2024
versionComment: Annotated with croissant_file_s3_object
countryOfOrigin: Unknown
individualCount: 68
dataUseModifiers: General Research Use
measurementTechnique: whole exome sequencing
includedInDataCatalog: https://www.synapse.org/DataCatalog:0
croissant_file_s3_object: https://synapse-croissant-metadata.s3.us-east-1.amazonaws.com/2024DataRelease_WholeExomeSeq_Rawfastq_syn53132831.2_datasetCollection_syn50913342_croissant.jsonld
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