ID

45569

Description

Principal Investigator: Stacey Gabriel, The Broad Institute, Boston, MA, USA MeSH: Muscular Dystrophies,Myopathies, Structural, Congenital,Arthrogryposis https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000655 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) - Nigel Laing (University of Western 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 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.

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dbGaP study = phs000655

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1. 1/23/23 1/23/23 - Dr. Christian Niklas

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Stacey Gabriel, The Broad Institute, Boston, MA, USA

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January 23, 2023

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