Mitochondrial pathway polygenic risk scores are associated with Alzheimer's Disease.

Genetic, animal and epidemiological studies involving biomolecular and clinical endophenotypes implicate mitochondrial dysfunction in Alzheimer's disease (AD) pathogenesis. Polygenic risk scores (PRS) provide a novel approach to assess biological pathway-associated disease risk by combining the effects of variation at multiple, functionally related genes. We investigated the associations of PRS for genes involved in 12 mitochondrial pathways (pathway-PRS) with AD in 854 participants from Alzheimer's Disease Neuroimaging Initiative.

A globally diverse reference alignment and panel for imputation of mitochondrial DNA variants.

Background: Variation in mitochondrial DNA (mtDNA) identified by genotyping microarrays or by sequencing only the hypervariable regions of the genome may be insufficient to reliably assign mitochondrial genomes to phylogenetic lineages or haplogroups. This lack of resolution can limit functional and clinical interpretation of a substantial body of existing mtDNA data. To address this limitation, we developed and evaluated a large, curated reference alignment of complete mtDNA sequences as part of a pipeline for imputing missing mtDNA single nucleotide variants (mtSNVs).

The WHO FCTC and global governance: effects and implications for future global public health instruments.

Introduction: This article analyses experience with the WHO Framework Convention on Tobacco Control (WHO FCTC) in the context of global governance. It examines ways in which the WHO FCTC has been addressed by international institutions, particularly within the UN system at the international and national levels. It seeks to understand the extent to which the WHO FCTC as an international legal obligation has contributed to its integration in the strategies, policies and programmes of UN system organisations.

SketchSnakes: sketch-line initialized Snakes for efficient interactive medical image segmentation.

We present an intuitive, fast and accurate 2D interactive segmentation method that combines a general subdivision-curve Snake possessing powerful editing capabilities, with a novel sketch-line user initialization process, and a pen input device. Using the pen (or a mouse), the Snake is quickly and precisely initialized with a few quick sketch lines drawn across the width of the target object. The smooth contour constructed using these lines is extremely close to the position and shape of the object boundary.