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Comment
. 2021 Mar;23(3):586.
doi: 10.1038/s41436-020-01032-6. Epub 2020 Nov 6.

Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al

Leslie G Biesecker  1 , Steven M Harrison  2 , Heidi L Rehm  2   3
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Free article
Comment

Correspondence on "The role of clinical response to treatment in determining pathogenicity of genomic variants" by Shen et al

Leslie G Biesecker et al. Genet Med. 2021 Mar.
Free article
No abstract available

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Comment in

  • Response to Biesecker et al.
    Shen JJ, Wortmann SB, Kluijtmans LAJ, Collins CD, van der Lee R, van Karnebeek CDM, Hegde MR. Shen JJ, et al. Genet Med. 2021 Apr;23(4):793-794. doi: 10.1038/s41436-020-01055-z. Epub 2021 Jan 8. Genet Med. 2021. PMID: 33420347 No abstract available.

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References

    1. Shen JJ, Wortmann SB, de Boer L, et al. The role of clinical response to treatment in determining pathogenicity of genomic variants. Genet Med. 2020 Oct 22; https://doi.org/10.1038/s41436-020-00996-9 [Epub ahead of print].
    1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–424. - DOI
    1. Tavtigian SV, Greenblatt MS, Harrison SM, et al. Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework. Genet Med. 2018;20:1054–1060. - DOI
    1. Tavtigian SV, Harrison SM, Boucher KM, Biesecker LG. Fitting a naturally scaled point system to the ACMG/AMP variant classification guidelines. Hum Mutat. 2020 Jul 27; https://doi.org/10.1002/humu.24088 [Epub ahead of print].

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