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Comment
. 2016 Feb;18(2):209.
doi: 10.1038/gim.2015.105. Epub 2015 Oct 29.

Bias in CFTR screening panels

Patrick R Sosnay  1 , Carlo Castellani  2 , Christopher M Penland  3 , Johanna M Rommens  4 , Michelle Lewis  1 , Karen S Raraigh  1 , Mary Corey  5 , Garry R Cutting  1
Affiliations
Comment

Bias in CFTR screening panels

Patrick R Sosnay et al. Genet Med. 2016 Feb.
No abstract available

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Conflict of interest statement

DISCLOSURE

The authors declare no conflict of interest.

Comment in

  • Response to Sosnay et al.
    Larson JL, Lim RM, Silver AJ, Silver MJ, Borroto C, Spurrier B, Petrossian TC, Silver LM. Larson JL, et al. Genet Med. 2016 Feb;18(2):209-10. doi: 10.1038/gim.2015.106. Epub 2015 Oct 29. Genet Med. 2016. PMID: 26513348 No abstract available.

Comment on

References

    1. Lim RM, Silver AJ, Silver MJ, et al. Targeted mutation screening panels expose systematic population bias in detection of cystic fibrosis risk. Genet Med. e-pub ahead of print 16 April 2015. - PubMed
    1. Grody WW, Thompson BH, Gregg AR, et al. ACMG position statement on prenatal/preconception expanded carrier screening. Genet Med. 2013;15:482–483. - PubMed
    1. Dorfman R, Nalpathamkalam T, Taylor C, et al. Do common in silico tools predict the clinical consequences of amino-acid substitutions in the. CFTR gene? Clin Genet. 2010;77:464–473. - PubMed
    1. Rehm HL, Berg JS, Brooks LD. ClinGen–the clinical genome resource. N Engl J Med. 2015;372:2235–2242. - PMC - PubMed

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