SNP Array Analysis in Constitutional and Cancer Genome Diagnostics – Copy Number Variants, Genotyping and Quality Control

Array-based comparative genomic hybridization analysis of genomic DNA was first applied in postnatal diagnosis for patients with intellectual disability (ID) and/or congenital anomalies (CA). Genome-wide single-nucleotide polymorphism (SNP) array analysis was subsequently implemented as the first li...

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Veröffentlicht in:	Cytogenetic and genome research 2011-12, Vol.135 (3-4), p.212-221
Hauptverfasser:	de Leeuw, N., Hehir-Kwa, J.Y., Simons, A., Geurts van Kessel, A., Smeets, D.F., Faas, B.H.W., Pfundt, R.
Format:	Artikel
Sprache:	eng
Schlagworte:	Comparative Genomic Hybridization - methods Comparative Genomic Hybridization - standards Congenital Abnormalities - diagnosis Congenital Abnormalities - genetics Data Interpretation, Statistical DNA Copy Number Variations Female Genotype Homozygote Humans Intellectual Disability - diagnosis Intellectual Disability - genetics Male Oligonucleotide Array Sequence Analysis - methods Oligonucleotide Array Sequence Analysis - standards Polymorphism, Single Nucleotide Precursor Cell Lymphoblastic Leukemia-Lymphoma - diagnosis Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Pregnancy Prenatal Diagnosis - methods Reference Values
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