Mountain View
biomedical and healthCAre Data Discovery Index Ecosystem
help Advanced Search
Title: Genetics of Inherited Muscle Disease      
Identifier:
phs000655.v2.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 the following clinicians affiliated with the associated institutes: Kathryn North and Nigel Clarke (Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, Australia) Hanns Lochmuller and Kate Bushby (The Newcastle Muscle Centre, Newcastle University, UK) Peter Kang (Boston Children's Hospital) Carsten Bonnemann (National Institutes of Health, Bethesda, MD, USA) 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 or Illumina's Rapid Capture Exome enrichment kit and sequencing was performed on an Illumina HiSeq 2000. In addition some samples were whole genome sequenced on Illumina HiSeq X Ten.
accesstypes:
download
enclave
landingpage: http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000655.v2.p1
authentication: simpleLogin
none
authorization:
none
duaIndividual
name:
Muscular Dystrophies
Myopathies, Structural, Congenital
Arthrogryposis
affiliations:
The Broad Institute, Boston, MA, USA
name:
Stacey Gabriel
roles:
Principal Investigator
affiliations:
Massachusetts General Hospital, The Broad Institute, 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 InvestigatorStacey GabrielThe Broad Institute, Boston, MA, USA Co-InvestigatorDaniel MacArthur, PhDMassachusetts General Hospital, The Broad Institute, Boston, MA, USA Funding SourceU54 HG003067National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
Identifier:
1
name:
General Research Use
Identifier:
2
name:
Disease-Specific (Neuromuscular Disease)
Identifier:
3
name:
Health/Medical/Biomedical
alternateIdentifiers:
yes
selectionCriteria:

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

dateReleased:
10-10-2014
version:
phs000655.v2.p1
dateModified:
10-20-2014
name:
dbGaP