| 1. |
- Elsik, Christine G., et al.
(author)
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The Genome Sequence of Taurine Cattle : A Window to Ruminant Biology and Evolution
- 2009
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In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 324:5926, s. 522-528
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Journal article (peer-reviewed)abstract
- To understand the biology and evolution of ruminants, the cattle genome was sequenced to about sevenfold coverage. The cattle genome contains a minimum of 22,000 genes, with a core set of 14,345 orthologs shared among seven mammalian species of which 1217 are absent or undetected in noneutherian (marsupial or monotreme) genomes. Cattle-specific evolutionary breakpoint regions in chromosomes have a higher density of segmental duplications, enrichment of repetitive elements, and species-specific variations in genes associated with lactation and immune responsiveness. Genes involved in metabolism are generally highly conserved, although five metabolic genes are deleted or extensively diverged from their human orthologs. The cattle genome sequence thus provides a resource for understanding mammalian evolution and accelerating livestock genetic improvement for milk and meat production.
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| 2. |
- Fresard, Laure, et al.
(author)
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
- 2019
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In: Nature Medicine. - : NATURE PUBLISHING GROUP. - 1078-8956 .- 1546-170X. ; 25:6, s. 911-919
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Journal article (peer-reviewed)abstract
- It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene(1). The current molecular diagnostic rate is estimated at 50%, with whole-exome sequencing (WES) among the most successful approaches(2-5). For patients in whom WES is uninformative, RNA sequencing (RNA-seq) has shown diagnostic utility in specific tissues and diseases(6-8). This includes muscle biopsies from patients with undiagnosed rare muscle disorders(6,9), and cultured fibroblasts from patients with mitochondrial disorders(7). However, for many individuals, biopsies are not performed for clinical care, and tissues are difficult to access. We sought to assess the utility of RNA-seq from blood as a diagnostic tool for rare diseases of different pathophysiologies. We generated whole-blood RNA-seq from 94 individuals with undiagnosed rare diseases spanning 16 diverse disease categories. We developed a robust approach to compare data from these individuals with large sets of RNA-seq data for controls (n = 1,594 unrelated controls and n = 49 family members) and demonstrated the impacts of expression, splicing, gene and variant filtering strategies on disease gene identification. Across our cohort, we observed that RNA-seq yields a 7.5% diagnostic rate, and an additional 16.7% with improved candidate gene resolution.
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| 3. |
- Häkkilä, Jonna, et al.
(author)
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The role and impact of aesthetics in designing mobile devices
- 2016
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In: Proceedings of the 18th International Conference on Human-Computer Interaction with Mobile Devices and Services Adjunct. - New York, NY, USA : Association for Computing Machinery (ACM). - 9781450344135 ; , s. 1142-1145
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Conference paper (peer-reviewed)abstract
- This workshop addresses a topic, which has been relatively (and surprisingly) little considered among mobile HCI research -- aesthetics in design. Whereas research in the area is under represented, aesthetics is one of the key parameters in product design, and an important part of user experience. By understanding the role and impact of aesthetics, we can better understand user behavior and preferences, create better user interfaces, and improve our design processes. As mobile HCI is expanding in mass markets to new areas and form factors such as bracelets, glasses and smart clothing, the possibilities for designers are growing. In this workshop, we consider, e.g., user research, design research, prototypes and case studies related to aesthetics in designing mobile devices and interactions, and draw a research agenda for the future.
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| 4. |
- Mencarini, Eleonora, et al.
(author)
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New Trends in HCI and Sports
- 2022
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In: MobileHCI 2022 Adjunct - Publication of the 24th ACM International Conference on Human-Computer Interaction with Mobile Devices and Services. - New York, NY, USA : ACM.
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Conference paper (peer-reviewed)abstract
- Over the last 15 years, we have witnessed a digitalization of the sports experience, i.e., many sports have been enhanced by digital and wearable devices. The centrality of the human body and the different contexts where sports can be practiced have led HCI research to explore how mobile and wearable devices could support the physical, social, and environmental aspects of sports disciplines. Yet, the field of HCI & sports continues to evolve under the push of new technological developments and events affecting people worldwide, such as the Covid-19 pandemic and climate change. Technological advancements like the metaverse, inbodied technologies, and AI have paved the way for augmented humans, esports, new forms of sociality, and new ways to engage the audience. Likewise, contextual factors push sports trends in two opposite directions simultaneously: on the one hand, they foster the indoorisation and individualization of sports; on the other hand, they encourage practicing sports outdoors and taking advantage of the "restorative environment"of nature. With this workshop, we would like to invite the MobileHCI community to discuss the current trends in portable technologies for sports and trace future directions for HCI research in this field.
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| 5. |
- Mencarini, Eleonora, et al.
(author)
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Preface to the Proceedings of the Workshop “New Trends in HCI and Sports” held at MobileHCI ‘22
- 2022
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In: CEUR Workshop Proceedings. - 1613-0073. ; 3267
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Conference paper (peer-reviewed)abstract
- The contemporary digitalization of the sports experience brought new challenges for the HCI community. HCI researchers started exploring how mobile and wearable devices could support the physical, social, and environmental aspects of sports, while technological transformations like the metaverse, inbodied technologies, and AI have recently paved the way for augmented humans, esports, new forms of sociality, and new ways to engage the sports audience. In this preface, we present the papers accepted to the workshop Net Trends in HCI and Sports, held in conjunction with MobileHCI ‘22, which precisely attempted to deal with the recent advancements in technology used in the sports domain.
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| 6. |
- Niemi, MEK, et al.
(author)
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- 2021
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swepub:Mat__t
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