Shallow Whole Genome Sequencing (sWGS) is a high throughput sequencing technology that explores the entire genome to detect chromosomal imbalances (gain/loss). The quantity of fragments analysed for each region of the genome is compared to a reference pool of data obtained from normal samples. The region is considered as altered if the number of fragments is below (loss) or above (gain) the number of fragments in the reference.
Blood, cells, amniotic fluid, CVS, miscarriage material (foetal tissue, skin, etc.), DNA.
We utilise an Illumina NovaSeq 6000 system.