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CCMG practice guideline: laboratory guidelines for next-generation sequencing

12 Jul 2019

Abstract excerpt

PurposeThe purpose of this document is to provide guidance for the use of next-generation sequencing (NGS, also known as massively parallel sequencing or MPS) in Canadian clinical genetic laboratories for detection of genetic variants in genomic DNA and mitochondrial DNA for inherited disorders, as well as somatic variants in tumour DNA for acquired cancers. They are intended for Canadian clinical laboratories...

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PMID: 31300550
DOI: 10.1136/jmedgenet-2019-106152

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