Exploiting the Power of NGS to Diagnose Rare Diseases

29/02/2016 - 3 minutes

Diploid (Belgium) is using genome sequencing data to diagnose rare diseases – and is now charging only if its algorithms can match the genome to a specific rare disease.

diploid_logo_rare_disease_ngsPatients of rare diseases often struggle with the lack of therapies options – an empty space where Biotechs seem to thrive. But therapy availability is not the only problem. Because these diseases are rare, they are often underdiagnosed…

The more typical method of analysing this type of genetic defects is Comparative Genomic Hybridization arrays (aCGH). This tool indicates if a patient has more or less genetic material than healthy DNA, and in what areas of the patient’s genome.

Whole genome shotgun (WGS) analysis can make diagnostics of rare diseases easier. Not only is next generation sequencing (NGS) getting cheaper, it is also more effective at pinpointing the exact genetic modification causing it.

Diploid specializes in rare disease diagnostics from NGS data, exploring two main types of genetic alteration: single nucleotide polymorphism (SNP) and copy number variation (CNV).

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