Molecular karyotyping using an SNP array for genomewide genotyping

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Molecular karyotyping using an SNP array for genomewide genotyping.

BACKGROUND Chromosomal imbalances are a major cause of developmental defects as well as cancer and often constitute the key in identification of novel disease related genes. Classical cytogenetic methods are limited in resolution and dependent on highly skilled labour, while methods with higher resolution, based on molecular cytogenetics approaches such as matrix CGH, are not widely available. ...

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ژورنال

عنوان ژورنال: Journal of Medical Genetics

سال: 2004

ISSN: 1468-6244

DOI: 10.1136/jmg.2004.022855