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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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[1.] Mmu/Fragment 058 02 - Diskussion
Zuletzt bearbeitet: 2014-11-19 09:53:33 Singulus
Fragment, Gesichtet, Miller et al 2010, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 58, Zeilen: 2-8
Quelle: Miller et al 2010
Seite(n): 750, Zeilen: left col. 14-26
Although clinical genetic laboratories are familiar with recurrent copy-number changes mediated by segmental duplication architecture, population studies suggest that the vast majority of copy-number variation is not recurrent (Itsara 2009). Even if array-CGH offers the sensitivity of high-resolution genome-wide detection of clinically significant CNVs, the additional challenge of interesting variants of uncertain clinical significance can impose a burden on clinicians and laboratories (Vos 2009).

13. Itsara, A., Cooper, G.M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R.M., Myers, R.M., Ridker, P.M., Chasman, D.I., et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148–161.

25. Vos, J., van Asperen, C.J., Wijnen, J.T., Stiggelbout, A.M., and Tibben, A. (2009). Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic. Genet. Med. 11, 742–749.

Although clinical genetic laboratories are familiar with recurrent copy-number changes mediated by segmental duplication architecture, population studies suggest that the vast majority of copy-number variation is not recurrent.11 Determining the clinical significance of variants identified by CMA can be challenging. Although CMA offers the sensitivity of high-resolution genome-wide detection of clinically significant copy-number variants (CNVs), the additional challenge of interpreting variants of uncertain clinical significance (VOUS), the preferred terminology based on a recent study of variant terminology, can impose a burden on clinicians and laboratories.12

11. Itsara, A., Cooper, G.M., Baker, C., Girirajan, S., Li, J., Absher, D., Krauss, R.M., Myers, R.M., Ridker, P.M., Chasman, D.I., et al. (2009). Population analysis of large copy number variants and hotspots of human genetic disease. Am. J. Hum. Genet. 84, 148–161.

12. Vos, J., van Asperen, C.J., Wijnen, J.T., Stiggelbout, A.M., and Tibben, A. (2009). Disentangling the Babylonian speech confusion in genetic counseling: an analysis of the reliability and validity of the nomenclature for BRCA1/2 DNA-test results other than pathogenic. Genet. Med. 11, 742–749.

Anmerkungen

Nothing has been marked as a citation, although a large part of the text and the references have been taken verbatim. The source is not named. M. M. is not among the co-authors of the source.

"interpreting" has changed to "interesting".

Sichter
(Graf Isolan), Hindemith


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