11 research outputs found
The Influence of Social Entrepreneurship in Tourism on an Arab Village in Israel
This chapter explores how social entrepreneurship in tourism can convey societal benefits in an underserved Arab community in Israel. This analysis draws from three theoretical perspectives (i) social sustainability, (ii) theories associated with tourism, development, and economic empowerment, and (iii) the growing body of scholarship on tourism and peace-building efforts, and also includes an empirical case study situated in the Israeli village of Jisr-az Zarqa. The study focuses on the development of the village’s first commercial guest house, which is operated through a special Arab-Jewish partnership. This study employed qualitative research methods such as participant observation and in-depth, open-ended interviews. Findings revealed three categories associated with the influence of social entrepreneurship in tourism in Jisr az-Zarqa. The first category is largely descriptive and identifies the barriers to tourism development in the village. The second category analyzes the role of social entrepreneurship in tourism through the special Arab-Jewish business partnership that operates the guesthouse. The third category offers insights into the impacts associated with Jisr az-Zarq’s first commercial guesthouse.Chapter published online: 24 December 2016</p
Mitochondrial DNA variation across 56,434 individuals in gnomAD
Genomic databases of allele frequency are extremely helpful for evaluating clinical variants of unknown significance; however, until now, databases such as the Genome Aggregation Database (gnomAD) have focused on nuclear DNA and have ignored the mitochondrial genome (mtDNA). Here, we present a pipeline to call mtDNA variants that addresses three technical challenges: (1) detecting homoplasmic and heteroplasmic variants, present, respectively, in all or a fraction of mtDNA molecules; (2) circular mtDNA genome; and (3) misalignment of nuclear sequences of mitochondrial origin (NUMTs). We observed that mtDNA copy number per cell varied across gnomAD cohorts and influenced the fraction of NUMT-derived false-positive variant calls, which can account for the majority of putative heteroplasmies. To avoid false positives, we excluded contaminated samples, cell lines, and samples prone to NUMT misalignment due to few mtDNA copies. Furthermore, we report variants with heteroplasmy ≥10%. We applied this pipeline to 56,434 whole-genome sequences in the gnomAD v3.1 database that includes individuals of European (58%), African (25%), Latino (10%), and Asian (5%) ancestry. Our gnomAD v3.1 release contains population frequencies for 10,850 unique mtDNA variants at more than half of all mtDNA bases. Importantly, we report frequencies within each nuclear ancestral population and mitochondrial haplogroup. Homoplasmic variants account for most variant calls (98%) and unique variants (85%). We observed that 1/250 individuals carry a pathogenic mtDNA variant with heteroplasmy above 10%. These mtDNA population allele frequencies are freely accessible and will aid in diagnostic interpretation and research studies
Finding the missing honey bee genes: lessons learned from a genome upgrade
Background:
The first generation of genome sequence assemblies and annotations have had a significant impact upon our understanding of the biology of the sequenced species, the phylogenetic relationships among species, the study of populations within and across species, and have informed the biology of humans. As only a few Metazoan genomes are approaching finished quality (human, mouse, fly and worm), there is room for improvement of most genome assemblies. The honey bee (Apis mellifera) genome, published in 2006, was noted for its bimodal GC content distribution that affected the quality of the assembly in some regions and for fewer genes in the initial gene set (OGSv1.0) compared to what would be expected based on other sequenced insect genomes.
Results:
Here, we report an improved honey bee genome assembly (Amel_4.5) with a new gene annotation set (OGSv3.2), and show that the honey bee genome contains a number of genes similar to that of other insect genomes, contrary to what was suggested in OGSv1.0. The new genome assembly is more contiguous and complete and the new gene set includes ~5000 more protein-coding genes, 50% more than previously reported. About 1/6 of the additional genes were due to improvements to the assembly, and the remaining were inferred based on new RNAseq and protein data.
Conclusions:
Lessons learned from this genome upgrade have important implications for future genome sequencing projects. Furthermore, the improvements significantly enhance genomic resources for the honey bee, a key model for social behavior and essential to global ecology through pollination.Medicine, Faculty ofNon UBCBiochemistry and Molecular Biology, Department ofReviewedFacult
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