Generative haplotype prediction outperforms statistical methods for small variant detection in next-generation sequencing data.

Motivation: Detection of germline variants in next-generation sequencing data is an essential component of modern genomics analysis. Variant detection tools typically rely on statistical algorithms such as de Bruijn graphs or Hidden Markov models, and are often coupled with heuristic techniques and thresholds to maximize accuracy. Despite significant progress in recent years, current methods still generate thousands of false-positive detections in a typical human whole genome, creating a significant manual review burden.

Ulnocarpal arthrodesis as a new treatment for ectrodactyly in a dog and a cat.

Case History: A 4-month-old male Shih Tzu dog (Case 1) and an 11-month-old female Devon Rex cat (Case 2) were referred to specialist veterinary hospitals for evaluation of right thoracic lameness and growth abnormality in the distal aspect of the forelimb.

Clinical Findings: Non-weight-bearing lameness and decreased range of motion were noted in the affected limbs of both cases. Case 1 had a plantigrade stance, and a cleft separation between the first and second digits extending upwards to the distal third of the antebrachium.

Author Correction: Plant-expressed cocaine hydrolase variants of butyrylcholinesterase exhibit altered allosteric effects of cholinesterase activity and increased inhibitor sensitivity.

A correction to this article has been published and is linked from the HTML and PDF versions of this paper. The error has not been fixed in the paper.

A novel modelling mechanism of PAEL receptor and GABARAPL2 interaction involved in Parkinson's disease.

Parkin associated endothelin like receptor (PAELR) is G-protein coupled and ubiquitinated by parkin, promoting its degradation. In autosomal recessive Parkinson's disease, mutations in parkin lead to PAELR aggregation in the endoplasmic reticulum (ER), ER stress, neurotoxicity and cell death. We have identified previously that the protein kinase C interacting protein (PICK1) interacts with and regulates the expression and cell toxicity of PAELR.