Computational biology in rare disease research

Reviewed by Danielle Ellis, B.Sc. By Keynote ContributorProfessor Damian SmedleyQueen Mary University of London and Genomics England Written by Keynote Contributor, Professor Damian Smedley. Rare diseases affect 6-8% of the world’s population and, although we know that small changes in the patient’s DNA are responsible for causing the majority of cases, most people wait several years before they are diagnosed and potentially treated.

Computational biology However, it is not just advances in sequencing technologies that have led to this success. In parallel, novel computational biology software has had to be developed to efficiently identify the variant that is causing the genetic disease from amongst the 8 million variants within the 3 billion base pairs in every sequenced genome.

Using these purely computational approaches we were able to identify the causative small nucleotide variant or indel diagnoses in just a handful of proposed candidates for 77% of samples using the panel-based approach, 88% using Exomiser, and 92% when using both together.

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