CNVizard-a lightweight streamlit application for an interactive analysis of copy number variants.

Background: Methods to call, analyze and visualize copy number variations (CNVs) from massive parallel sequencing data have been widely adopted in clinical practice and genetic research. To enable a streamlined analysis of CNV data, comprehensive annotations and good visualizations are indispensable. The ability to detect single exon CNVs is another important feature for genetic testing.

Diagnostic Use of Genome Sequencing in Patients With 11p15.5 Imprinting Disorder Features: A Pilot Study.

To assess the suitability of genome sequencing (GS) as the second step in the diagnostics of patients with the features of 11p15.5-associated imprinting disorders (ImpDis: Silver-Russell syndrome [SRS], Beckwith-Wiedemann syndrome [BWS]), we performed short-read GS in patients negatively tested for imprinting disturbances. Obtaining a genetic diagnosis for patients with the features of these syndromes is challenging due to the clinical and molecular heterogeneity and overlap, and many patients remain undiagnosed after the currently suggested stepwise diagnostic workup.

Direct Speaker Gaze Promotes Trust in Truth-Ambiguous Statements.

A speaker's gaze behaviour can provide perceivers with a multitude of cues which are relevant for communication, thus constituting an important non-verbal interaction channel. The present study investigated whether direct eye gaze of a speaker affects the likelihood of listeners believing truth-ambiguous statements. Participants were presented with videos in which a speaker produced such statements with either direct or averted gaze.