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Genetics of Inherited Muscle Disease

Identifiers: SRA: SRP030007
BioProject: PRJNA215658
dbGaP: phs000655
Study Type: 
Abstract: 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.

The SRA runs contain human sequence

These data are available through the dbGaP authorized access system.

Related SRA data

808 ( 744 samples )
808 (20.4Tbp; 6.4Tb)
Additional objects:
File type count
assembled contigs 46