Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?-Reference-Cited by-同舟云学术

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Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?

Published:2018-08-01 Issue:1 Volume:14 Page:
ISSN:2195-7819
Container-title:Life Sciences, Society and Policy
language:en
Short-container-title:Life Sci Soc Policy

Author:

Bertier Gabrielle^ORCID,Joly Yann

Funder

Université Toulouse III - Paul Sabatier

Canadian Institutes of Health Research

Fonds de Recherche du Québec - Santé

Centre de Développement des Composites du Québec (CA)

Mitacs

Network of Applied Genetic Medicine

Publisher

Springer Science and Business Media LLC

Subject

Management, Monitoring, Policy and Law,Philosophy,Biochemistry, Genetics and Molecular Biology (miscellaneous)

Link

http://link.springer.com/content/pdf/10.1186/s40504-018-0081-2.pdf

Reference50 articles.

1. ACMG Board of Directors. ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. Genet. Med. [Internet]. 2015 [cited 2014 Nov 13];17(1):68–69. Available from: http://www.ncbi.nlm.nih.gov/pubmed/25356965

2. Bertier G, Carrot-Zhang J, Ragoussis V, Joly Y. Integrating precision cancer medicine into healthcare—policy, practice, and research challenges. Genome Med. [Internet]. 2016a [cited 2016 Oct 25];8(1):108. Available from: http://genomemedicine.biomedcentral.com/articles/10.1186/s13073-016-0362-4

3. Bertier G, Hétu M, Joly Y. Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views. BMC Med Genet [Internet]. 2016b;9(1):52. Available from: http://bmcmedgenomics.biomedcentral.com/articles/10.1186/s12920-016-0213-6

4. Bertier G, Sénécal K, Borry P, Vears DF. Unsolved challenges in pediatric whole-exome sequencing: A literature analysis. Crit. Rev. Clin. Lab. Sci. [Internet]. 2017;54(2):134–142. Available from: https://doi.org/10.1080/10408363.2016.1275516

5. Bonafe L, Cormier-Daire V, Hall C, Lachman R, Mortier G, Mundlos S, et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am J Med Genet Part A. 2015;167(12):2869–92.

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