{"id":10097,"date":"2023-02-14T15:39:24","date_gmt":"2023-02-14T13:39:24","guid":{"rendered":"https:\/\/www.triolab.fi\/julkaisuja-optisen-genomikartoituksen-kaytosta-kliinisessa-tutkimuksessa\/"},"modified":"2026-03-23T15:42:14","modified_gmt":"2026-03-23T13:42:14","slug":"julkaisuja-optisen-genomikartoituksen-kaytosta-kliinisessa-tutkimuksessa","status":"publish","type":"post","link":"https:\/\/www.triolab.fi\/en\/julkaisuja-optisen-genomikartoituksen-kaytosta-kliinisessa-tutkimuksessa\/","title":{"rendered":"Publications about the use of optical genome mapping in clinical research"},"content":{"rendered":"

Prenatal assessment<\/h2>\n

Key finding: OGM generated similar results to 2-3 sequential assays combined
\n<\/strong><\/p>\n

Multisite evaluation and validation of OGM across 123 prenatal cases. OGM results were 100% concordant with standard-of-care (karyotyping, FISH and microarray) and reproducibility was 100% across all sites. OGM proved to generate, in a single assay, similar results to what would take 2 to 3 sequential assays to generate. Authors concluded it has potential to become a first-line assay, and reduce time and cost to results.<\/p>\n

Link to the study: Multisite evaluation and validation of Optical Genome Mapping for prenatal genetic testing<\/a><\/p>\n

Postnatal assessment<\/h2>\n

Key finding: OGM led to increase in pathogenic variants detection
\n<\/strong><\/p>\n

Multisite prospective and retrospective study with OGM in >1,000 postnatal datapoints collected. OGM achieved 99.6% full or partial concordance with standard-of-care (SOC). More importantly, OGM additional calls led to an increase of 10.1% and 14.8% in reportable variants, in a cohort of prospective cases and Autism Spectrum Disorder cases, respectively.<\/p>\n

Link to the study: Multisite Study of Optical Genome Mapping of Retrospective and Prospective Constitutional Disorder Cohorts<\/a><\/p>\n

Hematological malignancies<\/h2>\n

Key finding: OGM reported additional pathogenic findings
\n<\/strong><\/p>\n

Multisite validation study with OGM across 207 datasets from heme samples and controls. OGM performed at 100% for: concordance with SOC, sensitivity, specificity, accuracy, precision, PPV & NPV. More importantly, OGM reported additional clinically significant variants in 37% of the cases! Limit of detection (LOD) was 5% for most SVs and CNVs.<\/p>\n

Link to the study: Clinical Validation of Optical Genome Mapping for the Detection of Structural Variations in Hematological Malignancies<\/a><\/p>\n

Solid tumors<\/h2>\n

Key finding: OGM accurately stratified HRD (homologous recombination deficiency) and HRP (homologous recombination proficiency) breast tumor samples
\n<\/strong><\/p>\n

OGM was demonstrated to accurately characterize Homologous Recombination Deficiency  and stratify samples as HR proficient\/deficient, in triple-negative breast cancer tumors.<\/p>\n

Link to the study: Optical Genome Mapping for detecting Homologous Recombination Deficiency (HRD) in human breast cancers<\/a><\/p>\n<\/div><\/div><\/section>","protected":false},"excerpt":{"rendered":"

There are four new key studies proving optical genome mapping (OGM) utility and performance, as a key solution in key clinical research application areas.<\/p>\n","protected":false},"author":11,"featured_media":10095,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"ngg_post_thumbnail":0,"footnotes":""},"categories":[209,210,862],"tags":[],"vastuu":[],"class_list":["post-10097","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-diagnostics-and-imaging","category-research-and-industry","category-uutiset-en"],"acf":[],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\n\n\t\t