{"entity": "publication", "iuid": "41e97fa014a140aca6755475c66e0c3b", "timestamp": "2026-08-23T09:26:38.244Z", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/41e97fa014a140aca6755475c66e0c3b.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/41e97fa014a140aca6755475c66e0c3b"}}, "title": "From early methods for DNA diagnostics to genomes and epigenomes at high resolution during four decades - a personal perspective.", "authors": [{"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}], "type": "journal article", "published": "2024-12-09", "journal": {"title": "Ups. J. Med. Sci.", "issn": "2000-1967", "volume": "129", "issn-l": "0300-9734"}, "abstract": "In the 1980s, my research career begun with microbial DNA diagnostics at Orion Pharmaceutica in Helsinki, Finland, where I was part of an innovative team that developed novel methods based on the polymerase chain reaction (PCR) and the biotin-avidin interaction. One of our key achievements during this time was the invention of the solid-phase minisequencing method for genotyping single nucleotide polymorphisms (SNPs). In the 1990s, I shifted focus to human genetics, investigating mutations of the 'Finnish disease heritage'. During this period, I also developed quantitative methods using PCR and minisequencing of mitochondrial mutations and for forensic analyses. In the late 1990s and early 2000s, microarray-based SNP genotyping became a major topic for my research, first in Helsinki and later with my research group at Uppsala University in Sweden. By the mid-2000s, I began collaborating with leading clinicians on genetics of autoimmune disease, specifically systemic lupus erythematosus and later worked on the classification and clinical outcome of pediatric acute lymphoblastic leukemia, when large-scale genomics and epigenomics emerged. These collaborations, which focused on integrating genomics into clinical practice, lasted almost two decades until I retired from research in 2022. In parallel with my research activities, I led the SNP/DNA Technology Platform in the Wallenberg Consortium North program from 2001 to 2006. I continued as Director of the SNP&SEQ Technology Platform, which expanded rapidly during the 2010s, and became part of Science for Life Laboratory in 2013. Today (in 2024), the SNP&SEQ Technology Platform is one of the largest units of the Swedish National Genomics Infrastructure hosted by SciLifeLab. The present article provides a personal perspective on nearly four decades of research, highlighting projects and methods I found particularly exciting or important.", "doi": "10.48101/ujms.v129.11134", "pmid": "39691779", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11650520"}, {"db": "pii", "key": "11134"}], "notes": [], "created": "2026-08-21T13:06:54.377Z", "modified": "2026-08-21T13:06:54.424Z"}