Publications

Services offered by the CG platform have resulted in more that 500 scientific publications since the platform was established. In the last two years, we have contributed to 306 scientific publications. Among these, 28 articles were published in scientific journals with an impact factor >9.

WGS in Rare Disease

Implementation of WGS for rare inherited disease in healthcare that resulted in ~40% of patients receiving a clear diagnosis and to the discovery of more than 30 new disease-causing genes (Stranneheim et al, Genome Med 2023: PMED 33726816)

Ultra-sensitive Detection

Development and validation of a new method for ultra-sensitive detection of disease-driving mutations in hematologic malignancies (Chen et al., Nat Commun 2022; PMID: 35821208)

WGS in Cancer

Clinical study investigating the diagnostic yield of WGS and WTS as standard for all children diagnosed with cancer in Sweden, including establishment of multi-disciplinary molecular tumor boards (Wadensten et al., JCO Precis Oncol 2023; PMID: 37384868)

Single Cell & RNA-seq

Methods development and support with multimodal single cell sequencing demonstrating that tumor immunogenicity can be restored with dendritic cell
reprogramming (Zimmermannova et al., Sci Immunol 2023; PMID: 37418548)

Here the list of our scientific contributions.