The invention relates to a prenatal diagnostic method for the determination of a fetal chromosomal aneuploidy in a biological sample obtained from a pregnant woman, which method comprises enrichment and quantification of selected cell-free deoxyribonucleic acid sequences showing consensus nucleosome binding regions.

Means and methods for non-invasive diagnosis of chromosomal aneuploidy

Methodology for Copy Number Variant Detection from High Throughput DNA Exome Sequencing and Application to the Genetic Mapping of Rare Genetic Disorders

The agilent technologies' sureselect target enrichment system for next-generation sequencing demonstrates high performance and enables diverse applications

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The agilent technologies' sureselect target enrichment system for next-generation sequencing demonstrates high performance and enables diverse applications