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15 years of technological development bridged the gap for rare variant detection
1‐500 nucleotides
2002
Copy number detection by microarrays
>5 million nucleotides
Chromosome analysis
Sanger sequencing 2010 Exome / Genome sequencing
Microarrays identify rare de novo copy number variations (CNVs) in ~15% of patients with ID
Healthy Father Healthy Mother
Vissers et al. AJHG 2003; de Vries et al. AJHG 2005
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