RT Journal Article
SR Electronic
T1 CCMG practice guideline: laboratory guidelines for next-generation sequencing
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 792
OP 800
DO 10.1136/jmedgenet-2019-106152
VO 56
IS 12
A1 Hume, Stacey
A1 Nelson, Tanya N
A1 Speevak, Marsha
A1 McCready, Elizabeth
A1 Agatep, Ron
A1 Feilotter, Harriet
A1 Parboosingh, Jillian
A1 Stavropoulos, Dimitri J
A1 Taylor, Sherryl
A1 Stockley, Tracy L
A1 
YR 2019
UL http://jmg.bmj.com/content/56/12/792.abstract
AB The 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 engaged in developing, validating and using NGS methods.Methods of statement development The document was drafted by the Canadian College of Medical Geneticists (CCMG) Ad Hoc Working Group on NGS Guidelines to make recommendations relevant to NGS. The statement was circulated for comment to the CCMG Laboratory Practice and Clinical Practice committees, and to the CCMG membership. Following incorporation of feedback, the document was approved by the CCMG Board of Directors.Disclaimer The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada and should not be considered to be inclusive of all information laboratories should consider in the validation and use of NGS for a clinical laboratory service.