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Angaben zur Quelle [Bearbeiten]

Autor     David T. Miller, Margaret P. Adam, Swaroop Aradhya, Leslie G. Biesecker, Arthur R. Brothman, Nigel P. Carter, Deanna M. Church, John A. Crolla, Evan E. Eichler, Charles J. Epstein, W. Andrew Faucett, Lars Feuk, Jan M. Friedman, Ada Hamosh, Laird Jackson, Erin B. Kaminsky, Klaas Kok, Ian D. Krantz, Robert M. Kuhn, Charles Lee, James M. Ostell, Carla Rosenberg, Stephen W. Scherer, Nancy B. Spinner, Dimitri J. Stavropoulos, James H. Tepperberg, Erik C. Thorland, Joris R. Vermeesch, Darrel J. Waggoner, Michael S. Watson, Christa Lese Martin, David H. Ledbetter
Titel    Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
Zeitschrift    The American Journal of Human Genetics
Ausgabe    86
Datum    May 2010
Seiten    749–764
DOI    10.1016/j.ajhg.2010.04.006
URL    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2869000/pdf/main.pdf

Literaturverz.   

no
Fußnoten    no
Fragmente    1


Fragmente der Quelle:
[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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