Tuomo Mantere

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

This study evaluates high-resolution optical mapping for detecting chromosomal aberrations in 85 samples, achieving 100% concordance with standard tests for non-centromeric breakpoints.

This study assesses genome imaging in 48 leukemia cases, showing it can detect complex structural variants and chromosomal aberrations with high accuracy, potentially replacing traditional cytogenetic methods.