GENOMICS

While next-generation DNA sequencing technologies are now widely accessible and commonly used for many genome analyses and tag-based approaches, clear technological challenges remain. One of the difficulties is the growing capacity demand and sustaining the growing application of genomics in biomedical research will require that data interpretation becomes as accessible as data generation. Increased reproducibility through the adoption and implementation of a FAIR framework, together with increased throughput, will spur the progress of genomics.

There are currently three main challenges that X-omics will focus on to efficiently advance genomics by achieving new breakthroughs:

Higher throughput, lowering costs and sample needed to improve scaling of whole genome sequencing analysis and tag-based approaches.

Higher accuracy and sensitivity for e.g. structural variant detection using long-read technology.

Improve coverage of analysis towards more complete (human) genomes and transcriptomes.

Leadership

Edwin Cuppen is professor of Human Genetics and runs his research lab at the Centre for Molecular Medicine, University Medical Centre Utrecht. He is an expert in DNA sequencing and applies next-generation sequencing for both research and diagnostic purposes. In 2005, Edwin Cuppen received a European Young Investigators Award and in 2013, he was awarded a prestigious NWO Vici grant for dissecting the molecular mechanisms behind and functional consequences of structural variation in genomes. He is also one of the initiators of the nationally operating Center for which he oversees the centralized genome analysis and bioinformatic data integration efforts. To this end, the Hartwig Medical Foundation, an independent not-for-profit organization that was made possible by philanthropy, was established in 2015. Edwin is scientific director at HMF.

Other PI's involved

  Edwin Cuppen (UMCU)
  Ies Nijman (UMCU)
  Marcel Nelen (Radboudumc)
  Jeroen de Ridder (UMCU)
  Alexander Oudenaarden ()
  Hans Kristian Ploos van Amstel (UMCU)
  Alexander Hoischen (Radboudumc)
  Han Brunner (Radboudumc)

Genomic services

The main area of expertise of the genomics facilities, that are part of the X-omics research infrastructure, consists of guidance and execution of sequencing based research experiments. The services offered by the facilities are described in more detail in the genomics table.

Genomic services

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