Evidence map›Paper›PMID 22918138›Full record

ArticleThe Journal of molecular diagnostics : JMD2012

Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

Iris Schrijver, Nazneen Aziz, Daniel H Farkas, Manohar Furtado, Andrea Ferreira Gonzalez, Timothy C Greiner, Wayne W Grody, Tina Hambuch, Lisa Kalman, Jeffrey A Kant and 9 more

Abstract read
In one paragraph

Article in The Journal of molecular diagnostics : JMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed
–field-weighted citation impact
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

62 citing papers in PubMed.

  1. Review
  2. Review
  3. Article
  4. Review
  5. Methods to improve the accuracy of next-generation sequencing.Frontiers in bioengineering and biotechnology · 2023
    Review
  6. Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. How Can Law and Policy Advance Quality in Genomic Analysis and Interpretation for Clinical Care?The Journal of law, medicine & ethics : a journal of the American Society of Law, Medicine & Ethics · 2020
    Article
  15. Article
  16. Review
  17. Article
  18. Review
  19. From the Past to the Present: Insurer Coverage Frameworks for Next-Generation Tumor Sequencing.Value in health : the journal of the International Society for Pharmacoeconomics and Outcomes Research · 2018
    Article
  20. Article

2 more citing papers are in PubMed but not listed here.

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

19 authors.

Iris SchrijverWhole Genome Analysis Working Group, Association for Molecular Pathology Clinical Practice Committee, Bethesda, Maryland, USA. ischrijver@stanfordmed.org
Nazneen Aziz
Daniel H Farkas
Manohar Furtado
Andrea Ferreira Gonzalez
Timothy C Greiner
Wayne W Grody
Tina Hambuch
Lisa Kalman
Jeffrey A Kant
Roger D Klein
Debra G B Leonard
Ira M Lubin
Rong Mao
Narasimhan Nagan
Victoria M Pratt
Mark E Sobel
Karl V Voelkerding
Jane S Gibson

Funding

Intramural CDC HHS CC999999
6 · The paper itself

Abstract

This report of the Whole Genome Analysis group of the Association for Molecular Pathology illuminates the opportunities and challenges associated with clinical diagnostic genome sequencing. With the reality of clinical application of next-generation sequencing, technical aspects of molecular testing can be accomplished at greater speed and with higher volume, while much information is obtained. Although this testing is a next logical step for molecular pathology laboratories, the potential impact on the diagnostic process and clinical correlations is extraordinary and clinical interpretation will be challenging. We review the rapidly evolving technologies; provide application examples; discuss aspects of clinical utility, ethics, and consent; and address the analytic, postanalytic, and professional implications.

Indexed as

Genome, HumanComputational BiologyGenomicsHigh-Throughput Nucleotide SequencingHumansNeoplasmsPatents as TopicPathology, MolecularValidation Studies as Topic

Identifiers

PMID22918138
PMCPMC6504171

What OpenQuestion holds

Textmetadata
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.