NGI Seminar Series: Human Whole Genome Sequencing

Time: October 26, 13:00-17:00

Venue: Andreas Veslius lecture hall, Berzelius väg 3, Campus Solna, Stockholm

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

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

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

Read more and register at the event website.