Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes.

Long-read sequencing can often overcome the deficiencies in routine microarray or short-read technologies in detecting complex genomic rearrangements. Here we used Pacific Biosciences circular consensus sequencing to resolve complex rearrangements in two patients with rare genetic anomalies. Copy number variants (CNVs) identified by clinical microarray -chr8p deletion and chr8q duplication in patient 1, and interstitial deletions of chr18q in patient 2-were suggestive of underlying rearrangements.

Correlation of radiological parameters with functional outcomes post fixation with proximal humerus locking plates.

Purpose: Proximal humerus fractures account for 4-5% of all fractures in adults and affect females more than males. With the advent of special locking plates, the treatment trend has shifted more towards a surgical approach. These methods have produced good results but very high complications rates have been reported in the literature.

Involvement of ObRb receptor, nitric oxide, and BK channel signaling pathways in leptin-induced relaxation of pregnant mouse uterus.

The purpose of this study was to determine the receptor subtype and the underlying mechanisms involved in the relaxant effect to leptin in mid- and late-pregnant mouse uterus. We determined the relative mRNA expression of receptor subtypes, eNOS, and BK channel by quantitative PCR and also the overall receptor expression by immunohistochemistry. Isometric tension studies were conducted to evaluate the effects of leptin and to delineate its mechanisms.

A high-performance computational workflow to accelerate GATK SNP detection across a 25-genome dataset.

Background: Single-nucleotide polymorphisms (SNPs) are the most widely used form of molecular genetic variation studies. As reference genomes and resequencing data sets expand exponentially, tools must be in place to call SNPs at a similar pace. The genome analysis toolkit (GATK) is one of the most widely used SNP calling software tools publicly available, but unfortunately, high-performance computing versions of this tool have yet to become widely available and affordable.