Whole-exome sequencing (Genome sequencing)

Employs high throughput sequencing to identify disease causing mutations in a person’s exome.

The exome comprises 180,000 exons, encoding 22,000 genes, that contain the protein coding information and accounts for approximately 1% of the whole genome.

Whole-exome sequencing can evaluate 90-95% of the exome.

It is sequencing of proteins-coding DNA allowing assessment of a wide range of genetic variants for diagnostic purposes in epilepsy, autism, and intellectual disabilities.

Genome sequencing, sequences nearly all DNA.

A tyypical exome sequencing identifies a proximally 40,000 sequence variants, and a genome sequence identifies approximally 3 million variants that differ from the human genome reference.


Genomic abnormalities are important for diagnosis and classification and risk assessment in patients with acute myeloid leukemia and myelodysplastic syndromes.

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