📋 Tender Overview
Exactly 20 years after the successful completion of the Human Genome Project an international group of researchers the Human Genome Structural Variation Consortium HGSVC has now sequenced 32 human genomes at high resolution. The data fully captures the incidence of large-scale genomic features known as structural variants SVs as well as separately defining the sequences of both copies of the genomeone from the mother the other from the fatherfound in each individual. The project included individuals from around the world better capturing the genetic diversity of the human species.In 2001 the International Human Genome Sequencing Consortium announced the first draft of the human genome reference sequence. The Human Genome Project as it was called had taken more than eleven years of work and involved more than 1000 scientists from 40 countries. This reference however did not represent a single individual but instead is a composite of humans that could not accurately capture the complexity of human genetic variation.Building on this scientists have carried out many sequencing projects over the last 20 years to identify and catalog genetic differences between an individual and the reference genome. Those differences usually focused on small single base changes and missed larger genetic alterations. The larger differences are called structural variants SVs and include DNA segments that are inserted duplicated inverted or deleted within the genome. Structural variants are more difficult to detect than single base changes but they are more likely to interfere with gene function.An international research team has now published an article in Science announcing a new considerably more comprehensive reference dataset obtained using a combination of advanced sequencing and mapping technologies. The new reference dataset reflects 64 assembled human genomes from 32 individuals representing 25 different human populations from across the globe. Importantly each of the genomes was assembled without guidance from the human genome reference sequence and as a result better captures genetic differences between different human populations. The study was led by scientists from The Jackson Laboratory for Genomic Medicine in Farmington Conn. JAX the University of Washington in Seattle UW the European Molecular Biology Laboratory Heidelberg EMBL and the Heinrich Heine University Dsseldorf HHU.The first human genome sequence was a huge step forward but was incomplete says co-senior author Charles Lee Ph.D. FACMG director and professor The Jackson Laboratory for Genomic Medicine. In addition to single base variation we now know that structural variants also contribute very substantially to genomic differences between individuals. Our work provides a far more thorough and accurate window into that genomic variation across individuals and populations and it represents an incredibly valuable new resource for the research community.The new reference data now represent the full range of different genetic variant types and incorporates human genomes of great diversity. The aim is to estimate the individual risk of developing certain diseases such as cancer and to understand the underlying molecular mechanisms. This in turn can be used as a basis for more targeted therapies and preventative medicine.Capturing the full spectrum of structural variation found in human genomes is vital for clinical applications says Qihui Zhu Ph.D. computational scientist and co-first author on the study. These variants affect gene function and can contribute to diseases drug response differences and more. Knowing how they differ across individuals and across populations is needed to implement more effective genomic medicine.
