Topic

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Human Whole-Genome sequencing (WGS) is one of the largest areas in Genomics; it is one of the main applications supported at NGI.

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WGS is the most comprehensive way to asses the genetic variation. In a human context, what once was used mainly as a research tool for studies of underlying genetic cause of a disease, is now entering the clinics as a powerful aid in diagnostic and adopting individualized therapy. However, WGS results in a massive amount of data and presents challenges in its analysis and elucidation of the true meaning of the observed variation.

A massive effort of re-sequencing thousands of Swedish genomes has been undertaken with support from SciLifeLab and the Knut and Alice Wallenberg foundation. As a part of this collaborative effort, NGI has contributed to the creation of SweGen: a reference database comprised of 1000 human genomes sampled across the Swedish population. The variant frequency data is available for researchers and clinical professionals at http://swefreq.nbis.se.

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Alongside with SweGen, NGI is helping researchers and medical professionals to re-sequence multiple cohorts aiming to study a variety of diseases.

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