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Fetal copy number variation detection software tools | Whole-genome sequencing data analysis

The past several years have seen the development of methodologies to identify genomic variation within a fetus through the non-invasive sequencing of maternal blood plasma. These methods are based on the observation that maternal plasma contains a fraction of DNA (typically 5–15%) originating from the fetus, and such methodologies have already been used for the detection of whole-chromosome events (aneuploidies), and to a more limited extent for smaller (typically several megabases long) copy number variants (CNVs).

Source text:
(Rampasek et al., 2014) Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics.

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