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Strategies for exome and genome sequence data analysis in disease-gene discovery projects

✍ Scribed by PN Robinson; P Krawitz; S Mundlos


Book ID
110889283
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
534 KB
Volume
80
Category
Article
ISSN
0009-9163

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In this study, we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a gen