Margareta Nordling

Dr. Margareta Nordling is an Adjunct Associate Professor at Linköping University, affiliated with the Department of Biomedical and Clinical Sciences. Her work focuses on genetic variant classification, hereditary cancer syndromes, and clinical genomics, with significant contributions to colorectal cancer research.

• Gene-specific ACMG/AMP classification criteria for germline APC variants (2024)
• Long-read sequencing of chromosomal rearrangements (2024)
• Reduction of VUS in APC variant classification (2024)
• Germline sequencing in pediatric CNS tumors (2024)

Her research spans genomics, molecular diagnostics, and precision oncology, often collaborating with international consortia like ClinGen-InSiGHT. Current projects emphasize improving diagnostic accuracy for hereditary cancers and exploring structural genomic variants.

Selected scientific contributions:

• Co-author in key journals: Genetics in Medicine, Genome Research, American Journal of Human Genetics, The Lancet Regional Health

Dr. Nordling's work bridges clinical genetics with advanced sequencing technologies, addressing diagnostic challenges in oncology and developmental disorders.