Speeding disease gene discovery by sequence based candidate prioritization

BACKGROUND: Regions of interest identified through genetic linkage studies regularly exceed 30 centimorgans in size and can contain hundreds of genes. Traditionally this number is reduced by matching functional annotation to knowledge of the disease or phenotype in question. However, here we show that disease genes share patterns of sequence-based features that can provide a good basis for automatic prioritization of candidates by machine learning. RESULTS: We examined a variety of sequence-based features and found that for many of them there are significant differences between the sets of genes known to be involved in human hereditary disease and those not known to be involved in disease. We have created an automatic classifier called PROSPECTR based on those features using the alternating decision tree algorithm which ranks genes in the order of likelihood of involvement in disease. On average, PROSPECTR enriches lists for disease genes two-fold 77% of the time, five-fold 37% of the time and twenty-fold 11% of the time. CONCLUSION: PROSPECTR is a simple and effective way to identify genes involved in Mendelian and oligogenic disorders. It performs markedly better than the single existing sequence-based classifier on novel data. PROSPECTR could save investigators looking at large regions of interest time and effort by prioritizing positional candidate genes for mutation detection and case-control association studies

Pengalaman tahun pertama pelajar antarabangsa Universiti Malaysia Sabah

Tahun pertama di universiti adalah tempoh masa kritikal dalam kehidupan pelajar. Pelajar tidak hanya tertumpu dari segi intelek, malahan mereka juga turut mewujudkan dan mengekalkan hubungan peribadi, identiti, membuat keputusan mengenai kerjaya dan gaya hidup, kesihatan dan kesejahteraan diri, serta pembangunan terhadap falsafah kehidupan yang bersepadu. Institusi Pendidikan Tinggi di Malaysia berperanan sebagai medium dalam mewujudkan dan menyediakan persekitaran yang dapat membantu pelajar-pelajar antarabangsa merasai pengalaman tahun pertama yang bermakna di universiti tempatan.Kajian ini bertujuan untuk mendapatkan maklum balas daripada pelajar antarabangsa di Universiti Malaysia Sabah (UMS) pengalaman tahun pertama mereka.Kajian ini memberikan pandangan yang berharga terhadap penyesuian pelajar antarabangsa mengenai pelarasan bukan sahaja dalam sistem pendidikan yang baharu tetapi juga terhadap faktor- faktor seperti budaya dan psikososial. Kajian ini membincangkan beberapa faktor yang memberi kesan kepada pelajar antarabangsa pada tahun pertama mereka di universiti dalam usaha untuk menjadikan pengalaman yang bermakna serta meningkatkan pencapaian akademik mereka. Melalui kaedah kualitatif menerusi kajian kes ke atas 20 orang pelajar antarabangsa di Universiti Malaysia Sabah yang terlibat secara sukarela untuk ditemubual dengan menggunakan kaedah temubual semi struktur, hasil kajian diperolehi. Hasil dapatan penyelidikan mendapati bahawa aspek penyesuaian pelarasan persekitaran, faktor psikososial dan budaya, bahasa, akademik dan juga masalah sosial adalah aspek utama yang dihadapi oleh pelajar antarabangsa. Perbincangan dalam kertas kerja ini turut menawarkan dengan beberapa cadangan berhubung Institusi Pengajian Tinggi Awam di Malaysia dalam mewujudkan pengalaman yang bermakna bagi pelajar tahun pertama pelajar antarabangsa

SUSPECTS: enabling fast and effective prioritization of positional candidates.

SUSPECTS is a web-based server which combines annotation and sequence-based approaches to prioritize disease candidate genes in large regions of interest. It uses multiple lines of evidence to rank genes quickly and effectively while limiting the effect of annotation bias to significantly improve performance

Reading, Trauma and Literary Caregiving 1914-1918: Helen Mary Gaskell and the War Library

This article is about the relationship between reading, trauma and responsive literary caregiving in Britain during the First World War. Its analysis of two little-known documents describing the history of the War Library, begun by Helen Mary Gaskell in 1914, exposes a gap in the scholarship of war-time reading; generates a new narrative of "how," "when," and "why" books went to war; and foregrounds gender in its analysis of the historiography. The Library of Congress's T. W. Koch discovered Gaskell's ground-breaking work in 1917 and reported its successes to the American Library Association. The British Times also covered Gaskell's library, yet researchers working on reading during the war have routinely neglected her distinct model and method, skewing the research base on war-time reading and its association with trauma and caregiving. In the article's second half, a literary case study of a popular war novel demonstrates the extent of the "bitter cry for books." The success of Gaskell's intervention is examined alongside H. G. Wells's representation of textual healing. Reading is shown to offer sick, traumatized and recovering combatants emotional and psychological caregiving in ways that she could not always have predicted and that are not visible in the literary/historical record

Place attachment and post-disaster decision-making in a second home context: A conceptual framework

As a result of global climate change, natural disasters are becoming more common. However, to date, there has been almost no discussion on second homeowners and disasters, even though second homes are often found in areas that are more prone to natural hazards, i.e. mountainous and coastal regions. In order to develop suitable disaster planning, it is necessary to understand how the impacted individuals respond to disasters. To address this issue, this work presents a conceptual framework that emphasises the importance of place attachment to the post-disaster decision-making process of second homeowners. Due to the absence of literature on this specific topic as well as on second homes and disasters in general, a comprehensive review of the literature from a variety of fields, including tourism, environmental psychology, housing studies, and disaster studies, has been utilized to develop this framework. The resulting framework highlights the centrality of place attachment in this process with its interactions with risk awareness and external factors resulting in three potential final decisions: relocate, return, or return and adapt. As second homeowners can be an integral part of the local and regional economy, an understanding of this process is essential to ensure they are adequately supported post-disaster

COVID-19 publications: Database coverage, citations, readers, tweets, news, Facebook walls, Reddit posts

© 2020 The Authors. Published by MIT Press. This is an open access article available under a Creative Commons licence. The published version can be accessed at the following link on the publisher’s website: https://doi.org/10.1162/qss_a_00066The COVID-19 pandemic requires a fast response from researchers to help address biological, medical and public health issues to minimize its impact. In this rapidly evolving context, scholars, professionals and the public may need to quickly identify important new studies. In response, this paper assesses the coverage of scholarly databases and impact indicators during 21 March to 18 April 2020. The rapidly increasing volume of research, is particularly accessible through Dimensions, and less through Scopus, the Web of Science, and PubMed. Google Scholar’s results included many false matches. A few COVID-19 papers from the 21,395 in Dimensions were already highly cited, with substantial news and social media attention. For this topic, in contrast to previous studies, there seems to be a high degree of convergence between articles shared in the social web and citation counts, at least in the short term. In particular, articles that are extensively tweeted on the day first indexed are likely to be highly read and relatively highly cited three weeks later. Researchers needing wide scope literature searches (rather than health focused PubMed or medRxiv searches) should start with Dimensions (or Google Scholar) and can use tweet and Mendeley reader counts as indicators of likely importance

Pengaruh keluarga terhadap penyesuaian persekitaran kerjaya ekspatriat akademik antarabangsa: kajian kes Universiti Malaysia Sabah

Penarikan dan pengekalan kualiti kakitangan akademik adalah menjadi salah satu pertimbangan penting dalam polisi pengantarabangsaan Institusi Pengajian Tinggi. Dalam menambahbaik kedudukan global dan taraf serta kualiti di peringkat antarabangsa. Penubuhan universiti melalui Institusi Pengajian Tinggi menggalakkan lebih ramai kedatangan/pengrekrutan kakitangan akademik antarabangsa kerana pengetahuan yang ditawarkan oleh mereka dan situasi ini menjadi salah satu perkara yang menjadi semakin penting dan berlaku di Malaysia. Kajian ini memfokuskan pengaruh keluarga terhadap penyesuaian persekitaran kerjaya ekspatriat akademik di Universiti Malaysia Sabah (UMS). Penyelidik memilih untuk mengaplikasikan pendekatan kaedah penyelidikan kualitatif melalui reka bentuk kajian kes iaitu persampelan bertujuan menggunakan sesi temu bual separa berstruktur ke atas dua puluh orang ekspatriat akademik yang berkhidmat di UMS. Hasil kajian mendapati bahawa faktor keluarga merupakan pengaruh penyesuaian persekitaran kerjaya seseorang ekspatriat akademik semasa berkhidmat di Malaysia dan dilihat sebagai satu input berharga bagi ekspatriat akademik itu sendiri dalam menyesuaikan diri dalam kerjaya arena pendidikan tinggi negara sekaligus menggalakkan pengekalan ekspatriat akademik di UMS khususnya dan industri pendidikan tinggi di Malaysia secara amnya