VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

With the increasing importance of genomic data in understanding genetic diseases, there is an essential need for efficient and user-friendly tools that simplify variant analysis. Although multiple tools exist, many present barriers such as steep learning curves, limited reference genome compatibility, or costs. We developed VARista, a free web-based tool, to address these challenges and provide a streamlined solution for researchers, particularly those focusing on rare monogenic diseases.

A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.

Kaposi sarcoma (KS), caused by Herpesvirus-8 (HHV-8; KSHV), shows sporadic, endemic, and epidemic forms. While familial clustering of KS was previously recorded, the molecular basis of hereditary predilection to KS remains largely unknown. We demonstrate through genetic studies that a dominantly inherited missense mutation in BPTF segregates with a phenotype of classical KS in multiple immunocompetent individuals in two families.

Prepartum and postpartum mothers' and fathers' feelings of frustration in response to infant crying.

In this cross-sectional study performed in Canada, we evaluated the frustration levels of prepartum and postpartum mother and father couple-pairs. Our goal was to determine if there were differences in frustration levels between mothers and fathers while listening to prolonged infant crying, and further, how frustration levels might differ between prepartum and postpartum samples. Using two discrete groups, prepartum (Sample 1; N = 48) and postpartum (Sample 2; N = 44) mother and father couple-pairs completed 600 s of listening to audio-recorded infant cry sounds.

mutation causes sex-dependent neurologic disorder.

Background: Sex-specific predilection in neurological diseases caused by mutations in autosomal genes is a phenomenon whose molecular basis is poorly understood. We studied females of consanguineous Bedouin kindred presenting with severe global developmental delay and epilepsy.

Methods: Linkage analysis, whole exome sequencing, generation of CRISPR/cas9 knock-in mice, mouse behaviour and molecular studies RESULTS: Linkage analysis and whole exome sequencing studies of the affected kindred delineated a ~5 Mbp disease-associated chromosome 2q35 locus, containing a novel homozygous frameshift truncating mutation in , in line with recent studies depicting similar putative loss-of-function human phenotypes with female preponderance.

Outpatient percutaneous image-guided microwave ablation with monitored anesthesia care: An exploratory study.

Purpose: To evaluate the feasibility, safety, and periprocedural perception of pain for a combination approach of moderate and deep sedation for image-guided percutaneous microwave ablation of both primary and secondary malignant lesions.

Methods: This was a retrospective study of 33 image-guided percutaneous microwave ablation procedures performed on 33 patients in an outpatient-based interventional radiology center. We used a combination of midazolam, fentanyl, propofol, and/or ketamine to achieve mild to moderate sedation for the procedure, and also to achieve deeper sedation as needed for the ablation portion.