471 research outputs found
Office staff, Co-op
No full textThe photograph is of the co-op staff before or after its banquet at the Bank Hotel in Delta, Utah. Emil Sekerak is in the middle, wearing dark glasses. Next to him with the bow tie is Dwight Uchida, author Yoshiko Uchida\u27s father. Mr. Kanzaki from San Francisco is in the photo but it is not clear which man he is
Supplementary materials in support of the thesis "Methods to identify novel disease genes and uplift diagnosis rates in rare diseases"
No full textThis dataset supports the thesis entitled "Methods to identify novel disease genes and uplift diagnosis rates in rare diseases"
AWARDED BY: Univeristy of Southampton
DATE OF AWARD: 2023
This dataset contains:
1. Folder called 'Appendix papers'
This contains 15 published articles in peer review journals or preprint archives which represent work from my thesis.
Appendix Paper 1 | Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes
Appendix Paper 2 | Challenges in the diagnosis and discovery of rare genetic disorders using contemporary sequencing technologies
Appendix Paper 3 | The mutational constraint spectrum quantified from variation in 141,456 humans
Appendix Paper 4 | Transcript expression-aware annotation improves rare variant interpretation
Appendix Paper 5 | Addendum: The mutational constraint spectrum quantified from variation in 141,456 humans
Appendix Paper 6 | Advanced variant classification framework reduces the false positive rate of predicted loss of function (pLoF) variants in population sequencing data
Appendix Paper 7 | A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes
Appendix Paper 8 | Response to Ramos et al.
Appendix Paper 9 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report
Appendix Paper 10 | Loss-of-function variants in TAF4 are associated with a neurodevelopmental disorder. Human Mutation
Appendix Paper 11 | Monogenic de novo variants in DDX17 cause a novel neurodevelopmental disorder
Appendix Paper 12 | Targeting de novo loss of function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project
Appendix Paper 13 | A gene pathogenicity tool ‘GenePy’ identifies missed biallelic diagnoses in the 100,000 Genomes Project
Appendix Paper 14 | A panel-agnostic strategy ‘HiPPo’ improves diagnostic efficiency in the UK 2 Genome Medicine Service
Appendix Paper 15 | A novel variant in GATM causes idiopathic renal Fanconi syndrome and predicts progression to end-stage kidney disease
2. Folder called 'Supplementary Datasets'
All data can be opened using Microsoft Excel.
Supplementary Dataset SD1 | Enriched biological processes in DDX17 RNA-seq data [Co-author Cyril F. Bourgeois; University of Lyon]
Supplementary Dataset SD2 | Curation of pLoF variants in haploinsufficient genes
Supplementary Dataset SD3 | Curation of 3362 homozygous pLoF variants [Co-authors Moriel Singer-Berk, Eleina England; Broad Institute of MIT and Harvard]
Supplementary Dataset SD4 | Detailed phenotype table of patients with DDX17 variants
Supplementary Dataset SD5 | Differentially expressed genes in DDX17-KD cells compared to control cells [Co-author Cyril F. Bourgeois; University of Lyon]
Supplementary Dataset SD6 | Detailed phenotype table of patients with HDLBP variants
Supplementary Dataset SD7 | Manual curation of 45 remaining variants [Co-author N. Simon Thomas, University of Southampton]
Supplementary Dataset SD8 | Re-analysis of DeNovoLOEUF on 100,000 Genomes Project data
Supplementary Dataset SD9 | 36 possible missed diagnoses in patients with a cardiomyopathy phenotype
Supplementary Dataset SD10 | Genes associated with cardiomyopathies
Supplementary Dataset SD11 | Autosomal recessive disease genes
Supplementary Dataset SD12 | 682 participants with a potential missed diagnosis
Supplementary Dataset SD13 | Variants identified using the HiPPo protocol
3. Folder called 'Supplementary Tables'
All data can be opened using Microsoft Excel.
Supplementary Table S1 | Environmental tools in GEL
Supplementary Table S2 | List of 1,815 genes tolerant of homozygous loss-of-function variation [Co-author Moriel Singer-Berk; Broad Institute of MIT and Harvard]
Supplementary Table S3 | Genes tolerant of homozygous loss-of-function variation with an OMIM dominant association
Supplementary Table S4 | 27 genes with more than one Genomics England kindred affected
Supplementary Table S5 | 99 Class 2 and Class 3 genes
Supplementary Table S6 | Sequences of siRNAs against DDX17 [Co-author Cyril F. Bourgeois; University of Lyon]
Supplementary Table S7 | A summary of high-level phenotypes of the 100,000 Genomes Project patient population
Supplementary Table S8 | All human genes curated with a LOEUF score
Supplementary Table S9 | 182 participants without a listed cardiomyopathy phenotype that had a pathogenic variant returned by 100KGP in a cardiomyopathy-related gene
Supplementary Table S10 | Quality control of 24 samples from 8 families undergoing parallel research exome and clinical genome [Co-author Nichola Grahame; University of Southampton]
4. Folder called 'Supplementary Figures'
Contains a single word document will the following figures:
Supplementary Figure S1 | Crispr/Cas9 microinjection into X. tropicalis eggs produces mosaic homozygous crispant tadpoles encoding truncated Ddx17 which is inherited in the F1 generation [Co-authors Annie Godwin, Matt Guille; University of Portsmouth]
Supplementary Figure S2 | The amino acid alignment between the H. sapiens and X. tropicalis Ddx17 proteins [Co-authors Annie Godwin, Matt Guille; University of Portsmouth]
Supplementary Figure S3 | F0 mosaic homozygous X. tropicalis display reduced axon outgrowth, and working memory like F1 models, but also gastrulation defects and short term microcephaly [Co-authors Annie Godwin, Matt Guille]
Supplementary Figure S4 | Results of dark-light transitions assay and neuronal outgrowth [Co-authors Annie Godwin, Matt Guille; University of Portsmouth]
Supplementary Figure S5 | Compound heterozygous ddx17-/- tadpoles are morphologically normal but show working memory deficits [Co-authors Annie Godwin, Matt Guille; University of Portsmouth]
Supplementary Figure S6 | Network representation of the top 40 enriched biological processes [Co-author Cyril F. Bourgeois; University of Lyon]
Supplementary Figure S7 | Enriched biological processes for down-regulated and up-regulated genes [Co-author Cyril F. Bourgeois; University of Lyon]
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sj-docx-1-tia-10.1177_23312165221141142 - Supplemental material for Musical Emotion Categorization with Vocoders of Varying Temporal and Spectral Content
No full textSupplemental material, sj-docx-1-tia-10.1177_23312165221141142 for Musical Emotion Categorization with Vocoders of Varying Temporal and
Spectral Content by Eleanor E. Harding, Etienne Gaudrain, Imke J. Hrycyk, Robert L. Harris, Barbara Tillmann, Bert Maat and
Rolien H. Free, Deniz Başkent in Trends in Hearing</p
(2168) Eleanor E Harding
No full textThis three-year research project began in January 2014 and investigated whether, during the Victorian period, the professions formed a distinct self-sustaining social group with its own mores and values. The project looked at 16,000 individuals drawn from census data for Alnwick, Brighton, Bristol, Dundee, Greenock, Leeds, Merthyr Tydfil, Morpeth, and Winchester. The research project was funded by the UK Economic & Social Research Council and was based at the Universities of Oxford and Northumbria
Eleanor Bond
No full textCatalogue made to accompany an exhibition of Bond’s paintings from the following three series: “Cosmoville” (1995), “Some Cities” (1997-98) and “Social Centres” (1989-91). Marchand’s curatorial essay reveals the layers of meaning (social, economic, cultural and political) within the artist’s large-scale paintings of techno/post-industrial urban and suburban environments. Marchand also suggests that Bond’s futuristic landscapes are “allegorical sites” that play off of tensions between the real/the imaginary and utopia/dystopia. Special attention is given to the narrative element within the works (including the use of titles). Issues of monumentality, materiality and social space are also addressed. Sloan’s analysis of the artist’s imaginary cityscapes focuses on the issue of modernist utopia as it is conveyed in the urban planning and architecture of Expo 67 (Montreal). The author also calls attention to how Bond’s paintings reflect a “rhizomatic” interrelationship between buildings, urban spaces and natural phenomena. Texts in French and English. Biographical notes. 23 bibl. ref
Between the Lines : How to Detect Bias and Propaganda in the News and Everyday Life
No full textAn introductory textbook covering issues in news and media such as third world politics, feminism, economics and the environment. Sustaining an analytical stance throughout, the text critiques methodology of media-generated meaning in news. Illustrations consist mostly of cartoons and diagrams. Biographical notes on author. 210 bibl. ref
Neurocognitive entrainment to meter influences syntactic comprehension in music and language: An individual-differences approach
No full textResearch report: Studying the religious socialization of Sikh and 'mixed-faith' youth in Britain: contexts and issues
No full textAgainst a backdrop of phases of Sikh settlement in the UK, this article provides an overview of scholarship on UK Sikh communities. Attention turns to four ethnographic studies conducted by the author, two of which focused on unambiguously Sikh communities, and two of which challenge presuppositions of the boundedness of faith communities. Of these one was a study of two historically stigmatised caste-specific Punjabi communities; the other is currently examining the religious identity formation of young people in families in which only one parent is Sikh. Pointers and questions are identified that arise from these UK studies for researchers in mainland Europe. These include methodological considerations and encouragement to contribute to debates in the sociology of religion and to take account of Sikhs' increasing appearance in creative literature
Chronicle (Paterson, NJ) Vol. 29, No. 22, June 2, 1957
No full textLocal information pertaining to Paterson, N.J. and surrounding Passaic County. Issues may include events, government, business, political cartoons, engagement and marriage announcements, and birth announcements. This publication was also known as the Paterson Chronicle (1952) and the Paterson Sunday Chronicle (1951-1952)
THE REPRESENTATION OF ORIENTALISM NEGOTIATION IN ROWELL'S ELEANOR AND PARK
No full textThis paper explores the representation of orientalism negotiation in a novel entitled Eleanor and Park, written by Rainbow Rowell. This study utilized a descriptive-qualitative method to analyze the story by applying the representation theory proposed by Stuart Hall, especially the constructive approach suggested by Foucault. It focuses on the construction of meaning through language related to the depiction of oriental characters and how they struggle and respond to the treatments they receive from white people. Operating the concepts of orientalism from Edward Said and the discursive approach proposed by Foucault, this study explores the ideological position of the writer as well. From this study, it is found that as an American white writer, Rowell shows the negotiation of the orientalism concept. Presenting the white characters with oriental characteristics and non-white characters with accidental qualities, Rowell exemplifies the strategic way to create racial harmony. However, the efforts to create characterizations as forms of negotiation against orientalism have reached a dead end because the readers are more impressed by the honored class, which consists of mostly white students, who are able to subvert the negotiations on orientalism made by the author.
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