Clinical relevance of small copy-number variants in chromosomal microarray clinical testing

The 2010 consensus statement on diagnostic chromosomal microarray (CMA) testing recommended an array resolution ≥400 kb throughout the genome as a balance of analytical and clinical sensitivity. In spite of the clear evidence for pathogenicity of large copy-number variants (CNVs) in neurodevelopment...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Genetics in medicine 2017-04, Vol.19 (4), p.377-385
Hauptverfasser:	Hollenbeck, Dana, Williams, Crescenda L., Drazba, Kathryn, Descartes, Maria, Korf, Bruce R., Rutledge, S. Lane, Lose, Edward J., Robin, Nathaniel H., Carroll, Andrew J., Mikhail, Fady M.
Format:	Artikel
Sprache:	eng
Schlagworte:	631/1647/2017/2079 631/208/726/649/2157 692/420/2489 692/700/139/1512 Biomedicine Chromosome Aberrations CMA clinical testing Comparative Genomic Hybridization - methods Congenital Abnormalities - genetics DNA Copy Number Variations Female Human Genetics Humans intragenic deletion Laboratory Medicine Male Neurodevelopmental Disorders - genetics Oligonucleotide Array Sequence Analysis - methods original-research-article Sequence Deletion single-gene deletion small CNV
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Beschreibung
Zusammenfassung:	The 2010 consensus statement on diagnostic chromosomal microarray (CMA) testing recommended an array resolution ≥400 kb throughout the genome as a balance of analytical and clinical sensitivity. In spite of the clear evidence for pathogenicity of large copy-number variants (CNVs) in neurodevelopmental disorders and/or congenital anomalies, the significance of small, nonrecurrent CNVs (
ISSN:	1098-3600 1530-0366
DOI:	10.1038/gim.2016.132