Variant ranking pipeline for complex familial disorders.

Identifying genetic susceptibility factors for complex disorders remains a challenging task. To analyze collections of small and large pedigrees where genetic heterogeneity is likely, but biological commonalities are plausible, we have developed a weights-based pipeline to prioritize variants and genes. The Weights-based vAriant Ranking in Pedigrees (WARP) pipeline prioritizes variants using 5 weights: disease incidence rate, number of cases in a family, genome fraction shared amongst cases in a family, allele frequency and variant deleteriousness.

Acute Anterior Choroidal Artery Territory Infarction: A Case Series Report.

Due to the occlusion of the anterior choroidal artery (AChA), ischemic strokes are described with the classic clinical triad, namely hemiplegia, hemianesthesia, and homonymous hemianopsia. The aim of this study is to document the characteristic clinical presentation and course of AChA infract cases. We describe five cases with acute infarction in the distribution of the AChA, admitted to the Neurological Department of the University General Hospital of Larissa.

Gene and pathway based burden analyses in familial lymphoid cancer cases: Rare variants in immune pathway genes.

Genome-wide association studies have revealed common genetic variants with small effect sizes associated with diverse lymphoid cancers. Family studies have uncovered rare variants with high effect sizes. However, these variants explain only a portion of the heritability of these cancers.

Whole genome sequencing of Canadian Saccharomyces cerevisiae strains isolated from spontaneous wine fermentations reveals a new Pacific West Coast Wine clade.

Vineyards in wine regions around the world are reservoirs of yeast with oenological potential. Saccharomyces cerevisiae ferments grape sugars to ethanol and generates flavor and aroma compounds in wine. Wineries place a high-value on identifying yeast native to their region to develop a region-specific wine program.