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Title: Genetics of Inherited Muscle Disease      
Identifier:
phs000655.v1.p1
description:
The samples are drawn from a collection of patients with a heterogeneous set of neuromuscular disorders, including congenital muscular dystrophy, congenital myopathy, limb-girdle muscular dystrophy, Emery-Dreifuss muscular dystrophy, and arthrogryposis, along with unaffected parents and siblings in some cases. The samples were collected by clinicians affiliated with the Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia. All exome sequencing was performed at the Broad Institute of Harvard and MIT; samples sequence capture was performed using Agilent SureSelect Human All Exon Kit v2 and sequencing was performed on an Illumina HiSeq 2000.
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000655.v1.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Muscular Dystrophies
Myopathies, Structural, Congenital
Arthrogryposis
affiliations:
The Institute for Neuroscience and Muscle Research, Westmead, NSW, Australia
name:
Kathryn North, PhD
roles:
Principal Investigator
affiliations:
Massachusetts General Hospital, Boston, MA, USA
name:
Daniel MacArthur, PhD
roles:
Co-Investigator
affiliations:
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
name:
U54 HG003067
roles:
Funding Source
performedBy:
TitleNameInstitute Principal InvestigatorKathryn North, PhDThe Institute for Neuroscience and Muscle Research, Westmead, NSW, Australia Co-InvestigatorDaniel MacArthur, PhDMassachusetts General Hospital, Boston, MA, USA Funding SourceU54 HG003067National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
downloadURL: https://dbgap.ncbi.nlm.nih.gov/aa/wga.cgi?page=DUC&view_pdf&stacc=phs000655.v1.p1
Identifier:
phs000655.v1.p1_policy
name:
Data Use Certificate
Identifier:
1
name:
General Research Use
alternateIdentifiers:
yes
selectionCriteria:

All cases are either patients with severe neuromuscular diseases or immediate relatives of patients with those diseases.

dateReleased:
08-16-2013
version:
phs000655.v1.p1
dateModified:
08-28-2013
abbreviation:
NHGRI
name:
National Human Genome Research Institute
ID:
0
name:
dbGaP

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