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Comment
. 2021 May;29(5):724-725.
doi: 10.1038/s41431-021-00819-8. Epub 2021 Feb 17.

Reply letter to Battke et al

Aida M Bertoli-Avella  1 , Christian Beetz  1 , Najim Ameziane  1 , Peter Bauer  2
Affiliations
Comment

Reply letter to Battke et al

Aida M Bertoli-Avella et al. Eur J Hum Genet. 2021 May.
No abstract available

PubMed Disclaimer

Conflict of interest statement

All authors are employees of CENTOGENE GmbH. PB has shares at CENTOGENE BV.

Comment on

  • Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort.
    Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, Calvo M, Herrera-Ordonez N, Segura-Castel M, Diego-Alvarez D, Zawada M, Kandaswamy KK, Werber M, Paknia O, Zielske S, Ugrinovski D, Warnack G, Kampe K, Iurașcu MI, Cozma C, Vogel F, Alhashem A, Hertecant J, Al-Shamsi AM, Alswaid AF, Eyaid W, Al Mutairi F, Alfares A, Albalwi MA, Alfadhel M, Al-Sannaa NA, Reardon W, Alanay Y, Rolfs A, Bauer P. Bertoli-Avella AM, et al. Eur J Hum Genet. 2021 Jan;29(1):141-153. doi: 10.1038/s41431-020-00713-9. Epub 2020 Aug 28. Eur J Hum Genet. 2021. PMID: 32860008 Free PMC article.
  • The question of WGS's clinical utility remains unanswered.
    Battke F, Schulte B, Schulze M, Biskup S. Battke F, et al. Eur J Hum Genet. 2021 May;29(5):722-723. doi: 10.1038/s41431-021-00823-y. Epub 2021 Feb 17. Eur J Hum Genet. 2021. PMID: 33597733 Free PMC article. No abstract available.

References

    1. Bertoli-Avella AM, Beetz C, Ameziane N, Rocha ME, Guatibonza P, Pereira C, et al. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort. Eur J Hum Genet. 2021;29:141–53. - PMC - PubMed
    1. Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, et al. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet. 2021;108:115–33. - PMC - PubMed