Whole genome sequencing completes the molecular genetic testing workflow of patients with Lynch syndrome.

Multigene panel tests (MGPTs) revolutionized the diagnosis of Lynch syndrome (LS), however noncoding pathogenic variants (PVs) can only be detected by complementary methods including whole genome sequencing (WGS). Here we present a DNA-, RNA- and tumor tissue-based WGS prioritization workflow for patients with a suspicion of LS where MGPT detected no LS-related PV. Among the 100 enrolled patients, MGPT detected 28 simple PVs and an additional 3 complex PVs.

The length and the width of the human brain circuit connections are strongly correlated.

The correlations of several fundamental properties of human brain connections are investigated in a consensus connectome, constructed from 1064 braingraphs, each on 1015 vertices, corresponding to 1015 anatomical brain areas. The properties examined include the edge length, the fiber count, or edge width, meaning the number of discovered axon bundles forming the edge and the occurrence number of the edge, meaning the number of individual braingraphs where the edge exists. By using our previously published robust braingraphs at https://braingraph.

Comprehensive Clinical Genetics, Molecular and Pathological Evaluation Efficiently Assist Diagnostics and Therapy Selection in Breast Cancer Patients with Hereditary Genetic Background.

Using multigene panel testing for the diagnostic evaluation of patients with hereditary breast and ovarian cancer (HBOC) syndrome often identifies clinically actionable variants in genes with varying levels of penetrance. High-penetrance genes (, , , , , , ) inform specific clinical surveillance and therapeutic decisions, while recommendations for moderate-penetrance genes (, , , , , , , , , , , ) are more limited. A detailed disease history, including pedigree data, helps formulate the most appropriate and personalised management strategies.

New Graphs at the braingraph.org Website for Studying the Aging Brain Circuitry.

Human braingraphs or connectomes are widely studied in the last decade to understand the structural and functional properties of our brain. In the last several years our research group has computed and deposited thousands of human braingraphs to the braingraph.org site, by applying public structural (diffusion) MRI data from young and healthy subjects.