Dr. Kerstin Ludwig
Institute of Human Genetics
kerstin.ludwig@uni-bonn.de View member: Dr. Kerstin Ludwig
Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V
Identification of genetic variation in individual genomes is now a routine procedure in human genetic research and diagnostics. For many variants, however, insufficient evidence is available to establish a pathogenic effect, particularly for variants in non-coding regions. Furthermore, the sheer number of candidate variants renders testing in individual assays virtually impossible. While scalable approaches are being developed, the selection of methods and resources, and the application of a given framework to a particular disease or trait remain major challenges. This limits the translation of results from both genome-wide association studies and genome sequencing. Here, we discuss computational and experimental approaches available for functional annotation of non-coding variation.
PMID: 37034418
Institute of Human Genetics
kerstin.ludwig@uni-bonn.de View member: Dr. Kerstin Ludwig