Evidence map›Paper›PMID 31300550›Full record

ArticleJournal of medical genetics2019

CCMG practice guideline: laboratory guidelines for next-generation sequencing.

Stacey Hume, Tanya N Nelson, Marsha Speevak, Elizabeth McCready, Ron Agatep, Harriet Feilotter, Jillian Parboosingh, Dimitri J Stavropoulos, Sherryl Taylor, Tracy L Stockley and 1 more

Open access · hybridAbstract read
In one paragraph

Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed, 1 pooled it
4.7field-weighted citation impact, top 5% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

22 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.

  1. Pooled it
  2. Review
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  4. Article
  5. Article
  6. [Clinical application of next-generation sequencing in early screening of neonatal diseases].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025
    Article
  7. Article
  8. Review
  9. Article
  10. Article
  11. Review
  12. Article
  13. Review
  14. Practice guidelines forJournal of medical genetics · 2022
    Review
  15. Article
  16. Review
  17. Article
  18. Article
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors at 9 institutions in 1 country.

Stacey Hume *Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Tanya N Nelson *Department of Pathology and Laboratory Medicine, BC Children's Hospital, Vancouver, British Columbia, Canada.
Marsha SpeevakDepartment of Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, Ontario, Canada.
Elizabeth McCreadyDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Ron AgatepDepartment of Biochemistry and Molecular Genetics, University of Manitoba, Winnipeg, Manitoba, Canada.
Harriet FeilotterDepartment of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.
Jillian ParboosinghDepartment of Medical Genetics, University of Calgary Cumming School of Medicine, Calgary, Alberta, Canada.
Dimitri J StavropoulosDepartment of Paediatric Laboratory Medicine, Genome Diagnostics, Hospital for Sick Children, Toronto, Ontario, Canada.
Sherryl TaylorDepartment of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.
Tracy L StockleyDepartment of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada tracy.stockley@uhn.ca.ORCID 0000-0002-4476-9722
Canadian College of Medical Geneticists (CCMG)
University of Alberta · CAManitoba Health · CAMcMaster University · CAQueen's University · CATrillium Health Centre · CAUniversity Health Network · CAUniversity of British Columbia · CAUniversity of Calgary · CAUniversity of Toronto · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

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 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.

Indexed as

CanadaClinical Laboratory ServicesGenetics, MedicalGenetic TestingGenomicsGuidelines as TopicHigh-Throughput Nucleotide SequencingHumansdiagnostics testsgeneticsguidelinesmolecular genetics

Identifiers

PMID31300550
PMCPMC6929709
OpenAlexW2956486361

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.