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188 result(s) for "Blake, Edwin"
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DAS Writeback: A Collaborative Annotation System
Background Centralised resources such as GenBank and UniProt are perfect examples of the major international efforts that have been made to integrate and share biological information. However, additional data that adds value to these resources needs a simple and rapid route to public access. The Distributed Annotation System (DAS) provides an adequate environment to integrate genomic and proteomic information from multiple sources, making this information accessible to the community. DAS offers a way to distribute and access information but it does not provide domain experts with the mechanisms to participate in the curation process of the available biological entities and their annotations. Results We designed and developed a Collaborative Annotation System for proteins called DAS Writeback. DAS writeback is a protocol extension of DAS to provide the functionalities of adding, editing and deleting annotations. We implemented this new specification as extensions of both a DAS server and a DAS client. The architecture was designed with the involvement of the DAS community and it was improved after performing usability experiments emulating a real annotation task. Conclusions We demonstrate that DAS Writeback is effective, usable and will provide the appropriate environment for the creation and evolution of community protein annotation.
Towards Communication and Information Access for Deaf People
In tightly circumscribed communication situations an interactive system resident on a mobile device can assist Deaf people with their communication and information needs. The Deaf users considered here use South African Sign Language and information is conveyed by a collection of pre-recorded video clips and images. The system was developed according to our method of community-based co-design. We present several stages of the development as a series of case studies and highlight our experience. The first stage involved ethnographically inspired methods such as cultural probes. In the next stage we co-designed a medical consultation system that was ultimately dropped for technical reasons. A smaller system was developed for pharmaceutical dispensing and successfully implemented and tested. It now awaits deployment in an actual pharmacy. We also developed a preliminary authoring tool to tackle the problem of content generation for interactive computer literacy training. We are also working on another medical health information tool. We intend that a generic authoring tool be able to generate mobile applications for all of these scenarios. These mobile applications bridge communication gaps for Deaf people via accessible and affordable assistive technology.
User interfaces for communication bridges across the digital divide
Connecting people across the \"digital divide\" is as much a social effort as a technological one. We are developing a community-centred approach to learn how interaction techniques can compensate for poor communication across the digital divide. We have incorporated the lessons learned regarding social intelligence design in an abstraction and in a device called the SoftBridge. The SoftBridge allows communication to flow from endpoints through adapters, getting converted if necessary, and out to destination endpoints. Field trials are underway with two communities in South Africa: disadvantaged Deaf users and an isolated rural community. Initial lessons learned show that we have to design user interfaces that allow users to understand and cope with delay. We also learned that social concerns are often more important than the technical issues in designing such systems. [PUBLICATION ABSTRACT]
Towards communication and information access for Deaf people : research article
In tightly circumscribed communication situations, an interactive system resident on a mobile device can assist Deaf people with their communication and information needs. The Deaf users considered here use South African Sign Language and information is conveyed by a collection of pre-recorded video clips and images. The system was designed and implemented according to our method of community-based co-design. We present several stages of the development as a series of case studies and highlight our experience and the implications for design. The first stage involved ethnographically inspired methods such as cultural probes. In the next stage we co-designed a medical consultation system that was ultimately dropped for technical reasons. A smaller system was developed for pharmaceutical dispensing and successfully implemented and tested. It now awaits deployment in an actual pharmacy. We also developed a preliminary authoring tool to tackle the problem of content generation for interactive computer literacy training. We are also working on another medical health information tool. We intend that a generic authoring tool be able to generate mobile applications for all of these scenarios. These mobile applications bridge communication gaps for Deaf people via accessible and affordable assistive technology.
Searching for Variants, Genes, and Pathways Involved in Hyperlipidemia
Genome-wide association studies (GWAS) have been successful in identifying variants with low to moderate effects on serum lipid levels. However, determining the causal variant and underlying mechanism in an associated region has been difficult since linkage equilibrium (LD) of the associated variants often extends to large regions covering multiple genes, and GWAS provide no functional information. Using adipose gene expression data, we provide evidence of mechanism underlying a low-density lipoprotein cholesterol (LDL-C) GWAS signal in the apolipoprotein B (APOB) region. First, we determined that an LDL-C GWAS signal uncovered in a population of European ancestry (rs7575840) replicates in a Mexican study sample (1). Mexicans are an understudied population with a high prevalence of dyslipidemia; 44% of the population has high total cholesterol levels (above 200 mg/dl) (2). To further elucidate the mechanism underlying the association between rs7575840 and LDL-C, we measured lipid particle subclasses using Nuclear Magnetic Resonance (NMR), and we determined that rs7575840 is also associated with apoB-containing lipid particles, including very small very-low-density lipoprotein, intermediate lipoprotein, and LDL particles (1). We also discovered a possible mechanism underlying the increase in apoB-containing particles; rs7575840 disrupts a transcription factor binding site of the transcription factors CCAAT/enhancer binding protein alpha and CCAAT/enhancer binding protein beta, impacting gene expression of APOB and a noncoding RNA BU630349 in adipose tissue (1). In our second study, we searched for whether novel genes and biological gene expression networks associated with triglyceride (TG) levels replicated and shared across populations (Haas et al. submitted (3)). Adipose tissue has previously been shown to be involved in regulation of serum TG levels in humans (4). High serum TG levels predispose to coronary heart disease (CHD). Searching for novel TG-associated biological networks in adipose tissue may provide novel insights into TG regulation. We measured gene expression in adipose samples from two Finnish and one Mexican study sample. In each study sample, we observed a module (biological gene expression network) that was significantly associated with serum TG levels (3). The most significant TG modules observed in each of the three study samples significantly overlapped (p<10-10 ) and shared 34 genes, utilizing two unique methods of measuring gene expression, microarrays and RNA sequencing (RNAseq). Thus, the results should be robust to the measurement method of gene expression. In the 34 genes shared between the three TG modules, more nonsynonymous variants (p=0.034) and overall variants (p=0.018) were observed in individuals with high TGs when compared with the individuals with low TGs (3). Seven of the 34 genes (ARHGAP30, CCR1, CXCL16, FERMT3, HCST, RNASET2, SELPG) were identified as the key hub genes of all three TG modules (p<10 -7 ) (3). As only 11 of the 34 genes have prior evidence of involvement in CHD, type 2 diabetes, or obesity, our study provides 23 new candidates for TG regulation. Furthermore, two of the 34 genes (ARHGAP9, LST 1) reside in previous TG GWAS regions, suggesting them as the regional candidates underlying the GWAS signals. This study presents a novel TG biological network shared across populations. Our next study focused on determining whether Procadherin 15 ( PCDH15) variants are involved with Familial Combined Hyperlipidemia (FCHL). Previous studies have revealed that PCDH15 resides in a region linked to FCHL (5-7), so we hypothesized that nonsynonymous variants in PCDH15 may be associated with FCHL in 92 Finnish and Dutch families. We discovered that one variant (rs10825269) associates with serum TG, apoB, and TC (Total Cholesterol) levels in these families (8). Next, we made a PCDH15 knockout model in collaboration with investigators at Case Western Reserve University and discovered that serum TG and TC levels decreased in mice with both copies of PCDH15 knocked out (8).
The Art Division of the American Ceramic Society
The American Ceramic Society was started at a convention of the National Brick Manufacturers' Association held at Pittsburgh in February, 1898. It appears that a paper treating of the chemistry of glazes applicable to terra cotta was read before the association but excited little interest from most of those present-business men, who had yet to learn the value of scientific control to their industry. Nevertheless, the author of the paper found eight kindred spirits at the convention, and thirteen more joined them soon and effected the organization of the American Ceramic Society. Last February this society, having over eighteen hundred members, met at Pittsburgh to celebrate its twenty-fifth anniversary.
The Necessity of Developing the Scientific and Technical Bases of Art
IF one whose chief work has been the study and teaching of mathematics and some of its applications to engineering may venture an opinion on certain matters connected with art, I should like to give some reasons for the necessity of developing its scientific and technical bases, and offer a suggestion for procedure along that line.