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Comment
. 2017 Jan;19(1):3-5.
doi: 10.1038/gim.2016.106. Epub 2016 Aug 25.

Exploring the importance of case-level clinical information for variant interpretation

Affiliations
Comment

Exploring the importance of case-level clinical information for variant interpretation

Jonathan S Berg. Genet Med. 2017 Jan.
No abstract available

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References

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    1. ExAC Consortium. Analysis of protein-coding genetic variation in 60,706 humans. http://biorxiv.org/content/early/2015/10/30/030338. - PMC - PubMed
    1. Rehm HL, Berg JS, Brooks LD, et al. ClinGen. ClinGen--the Clinical Genome Resource. N Engl J Med. 2015;372:2235–2242. - PMC - PubMed
    1. Amendola LM, Jarvik GP, Leo MC, et al. Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium. Am J Hum Genet. 2016 [Epub ahead of print] - PMC - PubMed

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