Points to consider for laboratories reporting results from diagnostic genomic sequencing-Reference-Cited by-同舟云学术

Points to consider for laboratories reporting results from diagnostic genomic sequencing

Published:2017-11-28 Issue:1 Volume:26 Page:36-43
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Vears D. F.^ORCID,Sénécal K.,Clarke A. J.^ORCID,Jackson L.,Laberge A. M.,Lovrecic L.,Piton A.^ORCID,Van Gassen K. L. I.,Yntema H. G.,Knoppers B. M.,Borry P.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-017-0043-9.pdf

Reference20 articles.

1. Boycott K, Hartley T, Adam S, et al The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists. J Med Genet 2015;52:431–7.

2. Matthijs G, Souche E, Alders M, et al Guidelines for diagnostic next-generation sequencing. Eur J Hum Genet 2016;24:1515.

3. van El CG, Cornel MC, Borry P, et al Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics. Eur J Hum Genet 2013;21:S1–S5.

4. Kalia SS, Adelman K, Bale SJ, et al Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SFv2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med 2016;19:249–55.

5. Green RC, Berg JS, Grody MWW, et al ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genet Med 2013;15:565–74.

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