tissue-of-origin deconvolution

Fragmentomics in Pediatric Genetics: A New Frontier for Non-invasive Diagnosis of Rare Congenital and Metabolic Disorders

Stefan Bittmann, Elisabeth Luchter & Elena Moschüring-Alieva · Asian Journal of Medicine and Health · 2026

Cell-free DNA (cfDNA) circulating in plasma is fragmented non-randomly, and the resulting patterns carry information about the cells and tissues from which the molecules were released. The analysis of these patterns, termed fragmentomics, includes fragment size distributions, pre...