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Exome and genome sequencing: a revolution for the discovery and diagnosis of monogenic disorders

H Stranneheim1, A Wedell1

  • 1Department of Molecular Medicine and Surgery, Science for Life Laboratory, Center for Molecular Medicine, Karolinska Institutet and the Centre for Inherited Metabolic Diseases, Karolinska University Hospital, Stockholm, Sweden.

Journal of Internal Medicine
|August 8, 2015
PubMed

Keywords:
genomic medicinemassively parallel DNA sequencingmonogenic disorderswhole-exome sequencingwhole-genome sequencing

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