I am active at Karolinska Institutet and Karolinska University Hospital as a consultant and Professor in Clinical Genetics, director of the Clinical Genetics diagnostic laboratory and group leader for the Rare Diseases research group. I am also involved in Genomic Medicine Sweden (GMS), both as co-chair of GMS - Rare Diseases and a member of the GMS management group. My main areas of research are the study of rare genetic diseases, both clinically and at the molecular level to improve genetic diagnostics, increase knowledge about genotype-phenotype correlations and further understanding of disease biology. I am especially interested structural genomic variation, how it forms and how it causes human genetic disease. Detailed characterization of chromosomal rearrangements is performed with a variety of methodologies and next generation sequencing platforms. Findings are functionally validated in induced pluripotent stem cells and zebrafish embryos.My group has pioneered the implementation of WGS-karyotyping or cytogenomics in clinical diagnostics as well as research. We have developed several novel bioinformatic tools for the analysis of structural variants from genome sequencing data. The pipelines have been implemented in clinical diagnostic at the Karolinska University Laboratory, increasing the diagnostic yield of genome sequencning based gene panels and trios. Most recently I have evaluated different sequencing technologies, including linked read and long read sequencing, to detect and characterize structural variants in rare disease patients.Home page: https://staff.ki.se/people/anna-lindstrandORCID: 0000-0003-0806-5602email: anna.lindstrand@ki.se