Identification and validation of copy number variants using SNP genotyping arrays from a large clinical cohort.

BACKGROUND: Genotypes obtained with commercial SNP arrays have been extensively used in many large case-control or population-based cohorts for SNP-based genome-wide association studies for a multitude of traits. Yet, these genotypes capture only a small fraction of the variance of the studied traits. Genomic structural variants (GSV) such as Copy Number Variation (CNV) may account for part of the missing heritability, but their comprehensive detection requires either next-generation arrays or sequencing. Sophisticated algorithms that infer CNVs by combining the intensities from SNP-probes for the two alleles can already be used to extract a partial view of such GSV from existing data sets. RESULTS: Here we present several advances to facilitate the latter approach. First, we introduce a novel CNV detection method based on a Gaussian Mixture Model. Second, we propose a new algorithm, PCA merge, for combining copy-number profiles from many individuals into consensus regions. We applied both our new methods as well as existing ones to data from 5612 individuals from the CoLaus study who were genotyped on Affymetrix 500K arrays. We developed a number of procedures in order to evaluate the performance of the different methods. This includes comparison with previously published CNVs as well as using a replication sample of 239 individuals, genotyped with Illumina 550K arrays. We also established a new evaluation procedure that employs the fact that related individuals are expected to share their CNVs more frequently than randomly selected individuals. The ability to detect both rare and common CNVs provides a valuable resource that will facilitate association studies exploring potential phenotypic associations with CNVs. CONCLUSION: Our new methodologies for CNV detection and their evaluation will help in extracting additional information from the large amount of SNP-genotyping data on various cohorts and use this to explore structural variants and their impact on complex traits.

Development of a Database for Drilled Shaft Foundation Testing (DSHAFT), June 2012

Drilled shafts have been used in the US for more than 100 years in bridges and buildings as a deep foundation alternative. For many of these applications, the drilled shafts were designed using the Working Stress Design (WSD) approach. Even though WSD has been used successfully in the past, a move toward Load Resistance Factor Design (LRFD) for foundation applications began when the Federal Highway Administration (FHWA) issued a policy memorandum on June 28, 2000.The policy memorandum requires all new bridges initiated after October 1, 2007, to be designed according to the LRFD approach. This ensures compatibility between the superstructure and substructure designs, and provides a means of consistently incorporating sources of uncertainty into each load and resistance component. Regionally-calibrated LRFD resistance factors are permitted by the American Association of State Highway and Transportation Officials (AASHTO) to improve the economy and competitiveness of drilled shafts. To achieve this goal, a database for Drilled SHAft Foundation Testing (DSHAFT) has been developed. DSHAFT is aimed at assimilating high quality drilled shaft test data from Iowa and the surrounding regions, and identifying the need for further tests in suitable soil profiles. This report introduces DSHAFT and demonstrates its features and capabilities, such as an easy-to-use storage and sharing tool for providing access to key information (e.g., soil classification details and cross-hole sonic logging reports). DSHAFT embodies a model for effective, regional LRFD calibration procedures consistent with PIle LOad Test (PILOT) database, which contains driven pile load tests accumulated from the state of Iowa. PILOT is now available for broader use at the project website: http://srg.cce.iastate.edu/lrfd/. DSHAFT, available in electronic form at http://srg.cce.iastate.edu/dshaft/, is currently comprised of 32 separate load tests provided by Illinois, Iowa, Minnesota, Missouri and Nebraska state departments of transportation and/or department of roads. In addition to serving as a manual for DSHAFT and providing a summary of the available data, this report provides a preliminary analysis of the load test data from Iowa, and will open up opportunities for others to share their data through this quality–assured process, thereby providing a platform to improve LRFD approach to drilled shafts, especially in the Midwest region.

Treasurer's Annual Report, June 30, 2011

In accordance with Iowa law, this report submitted to the State Treasury. This report discloses all cash receipts and disbursements for fiscal year and the final balance held in the treasury. In addition, you will find descriptions of various treasury activities. This information is a welcomed the opportunity to share this with you and hope it will help you understand the treasurer’s role in state government.

Treasurer's Annual Report, June 30, 2012

In accordance with Iowa law, this report submitted to the State Treasury. This report discloses all cash receipts and disbursements for fiscal year and the final balance held in the treasury. In addition, you will find descriptions of various treasury activities. This information is a welcomed the opportunity to share this with you and hope it will help you understand the treasurer’s role in state government.

Treasurer's Annual Report, June 30, 2009

In accordance with Iowa law, this report submitted to the State Treasury. This report discloses all cash receipts and disbursements for fiscal year and the final balance held in the treasury. In addition, you will find descriptions of various treasury activities. This information is a welcomed the opportunity to share this with you and hope it will help you understand the treasurer’s role in state government.

Face à l'insoutenable. Vivre et se construire avec des souvenirs d'abus sexuels

L'objectif de cette recherche est d'explorer l'impact des abus sexuels tel que perçu par des personnes adultes ayant été victimes dans leur enfance. Une attention particulière est portée sur l'évolution de cette perception. A cette fin, deux groupes de personnes ont été sollicités : des patients suivis en thérapie de groupe dans un centre spécialisé et des personnes ayant terminé une thérapie centrée sur les abus sexuels depuis au moins cinq ans.Des entretiens semi-structurés ont été menés tous les six mois pendant deux ans avec six femmes en thérapie, ainsi qu'avec trois femmes et un homme ayant terminé leur travail thérapeutique à ce sujet.L'analyse qualitative, inspirée de l'IPA, a révélé huit thèmes. A la recherche de la normalité, Vie intime et sexualité, et Du secret à la reconnaissance sont trois des problématiques majeures présentées par les femmes aux premiers entretiens. L'analyse révèle l'évolution de ces thèmes au cours des deux ans et les « témoins de l'après-thérapie » donnent des pistes quant aux suites possibles. Les participants témoignent également de leurs diverses Démarches thérapeutiques. Question de survie est un thème faisant trait à la dissociation structurelle de la personnalité telle qu'elle apparaît dans le discours des participants et telle qu'ils la décrivent. De la réviviscence au souvenir, Attribution de sens et Vivre après amènent chacun des aspects spécifiques liés à la résilience et ultimement à l'épanouissement.Ces résultats font ressortir des thématiques qui se révèlent être particulièrement difficiles pour ces personnes ayant été abusées sexuellement dans leur enfance, tout en soulignant l'évolution possible au fil du temps et à l'aide des thérapies. Ils révèlent également les manières dont le traumatisme est peu à peu intégré par les participants dans leur histoire de vie.This study's aim is to explore how survivors perceive the impact on their adult life of child sexual abuse and how it changes over time. To this effect, two groups of people were solicited: patients involved in group therapy in a specialised treatment centre and people who had finished therapy focused on the trauma caused by the abuse at least five years prior to this study.Semi-structured interviews were conducted at 6-month intervals over two years with six women in therapy. Three women and one man who had finished therapy accepted to share their experience.Qualitative analysis inspired by IPA revealed eight themes. Searching for normality, Tuning feelings with sexual life, and From secrecy to acknowledgment are three of the main issues presented by the women at the initial interviews. The analysis reveals how these themes evolve over the two years, while the participants who have finished their therapy give insights of possible futures. Participants also reflected on their various Therapeutical experiences. A matter of survival relates to structural dissociation of the personality as it appears in the participants' discourse and as they describe it. Placing the memory in the past, Making meaning, and And life goes on each bring out specific aspects linked to resiliency and finally to thriving.These results highlight the issues that are particularly difficult in dealing with the aftermaths of child sexual abuse and underline their possible transformation with time and therapy. They also reveal the ways in which the trauma is gradually integrated by the participants into their life-history.

Evaluation of transversal competencies: pilot project in a maths course for first-year business

The aim of this communication is to describe the results of a pilot project for the assessment of the transversal competency "the capacity for learning and responsibility". This competency is centred on the capacity for the analysis, synthesis, overview, and practical application of newly acquired knowledge. It is proposed by the University of Barcelona in its undergraduate degree courses,through multidisciplinary teaching teams. The goal of the pilot project is to evaluate this competency.We worked with a group of students in a first-year Business Degree maths course, during the firstsemester of the 2012/2013 academic year. The development of the project was in two stages: (i)design of a specific task to share with the same students in the following semester when the subjectwould be economic history; and (ii) the elaboration of an evaluation rubric in which we defined thecontent, the aspects to evaluate, the evaluation criteria, and the marking scale. The attainment of theexpectations of quality on the specific task was scored following this rubric, which provided a singlebasis for the precise and fair assessment by the instructor and for the students' own self-evaluation.We conclude by describing the main findings of the experience. There particularly stood out the highscore in the students' self-evaluation given to one aspect of the competency – their capacity forlearning – in stark contrast to their instructor's quite negative evaluation. This means that we have towork both to improve teaching practice and to identify the optimal competency evaluationmethodology.

Desenvolupament d'una aplicació web per a la gestió d'intercanvi de llibres i compartició de relats

El projecte es basa en el desenvolupament d'un aplicació web amb l'objectiu de facilitar l’intercanvi de llibres mitjançant una manera ràpida i eficaç alhora que es redueixen els costos fins a ser mínims o inexistents. També inclou la funcionalitat d'afegir relats d'autors aficionats amb la finalitat de compartir aquests amb la resta d'usuaris, els quals tenen la possibilitat de comentar tant els llibres com els relats.

Sharing data between LSDBs and central repositories.

Several Locus-Specific DataBases (LSDBs) have recently been approached by larger, more general data repositories (including NCBI and UCSC) with the request to share the DNA variant data they have collected. Within the Human Genome Variation Society (HGVS) a document was generated summarizing the issues related to these requests. The document has been circulated in the HGVS/LSDB community and was discussed extensively. Here we summarize these discussions and present the concluded recommendations for LSDB data sharing with central repositories.

Stereotypes of Age Differences in Personality Traits: Universal and Accurate?

Age trajectories for personality traits are known to be similar across cultures. To address whether stereotypes of age groups reflect these age-related changes in personality, we asked participants in 26 countries (N = 3,323) to rate typical adolescents, adults, and old persons in their own country. Raters across nations tended to share similar beliefs about different age groups; adolescents were seen as impulsive, rebellious, undisciplined, preferring excitement and novelty, whereas old people were consistently considered lower on impulsivity, activity, antagonism, and Openness. These consensual age group stereotypes correlated strongly with published age differences on the five major dimensions of personality and most of 30 specific traits, using as criteria of accuracy both self-reports and observer ratings, different survey methodologies, and data from up to 50 nations. However, personal stereotypes were considerably less accurate, and consensual stereotypes tended to exaggerate differences across age groups.

The tension between academic knowledge production and online peer production

Peer-reviewed

Memòria justificativa de recerca de la convocatòria MQD: PRESENT@: sala de graus virtual multidisciplinar

Un treball final de carrera (TFC) és un dels últims passos de molts estudis, com per exemple els graus d'enginyeria. Els estudiants solen presentar els resultats del seu projecte final en una presentació pública, on un comitè avalua el seu treball. Els estudiants, en aquesta activitat, s'ocupen de competències com ara: fer presentacions orals efectives en entorns públics, en una situació estressant. Però, es pot assolir aquesta competència en un entorn virtual?A la Universitat Oberta de Catalunya (UOC), una universitat 100% virtual, es proposa una solució basada en les presentacions en vídeo que es pugen en una eina, Present@, que els permet compartir les presentacions i permet fer preguntes i escriure les respostes en un entorn obert.Present@ ofereix una eina millorada per pujar vídeos, que simplifica el procés i fa que sigui apropiada per als estudiants de qualsevol àrea de coneixement. Però treballar amb vídeos va un pas més enllà i requereix també la tecnologia adequada per donar suport a aquest tipus d'arxius. Així, s'ha afegit al Present@ un servei d'"streaming", Kaltura. Amb aquest servei els estudiants poden pujar fàcilment gairebé qualsevol format de vídeo i és possible fer comentaris en vídeo.131 estudiants han estat usant el Present@ durant 4 semestres. Per avaluar l'eina, els estudiants han contestat un qüestionari i de les respostes rebudes es conclou que aquest enfocament permet als estudiants virtuals adquirir la major part de les competències relacionades amb el TFC i, en concret, amb la dissertació virtual en entorns virtuals. Potser l'única característica a què no s'enfronten és la tensió de les preguntes.És important assenyalar que, gràcies a les millores introduïdes, el Present@ està present, actualment en més de 100 aules a UOC i s'utilitza no només per al TFC, sinó també per explicar assignatures per ajudar els estudiants

Sharing Open Source License and Copyright Data with SPDX

Organizations across the globe are creating and distributing products that include open source software. To ensure compliance with the open source licenses, each company needs to evaluate exactly what open source licenses and copyrights are included - resulting in duplicated effort and redundancy. This talk will provide an overview of a new Software Package Data Exchange (SPDX) specification. This specification will provide a common format to share information about the open source licenses and copyrights that are included in any software package, with the goal of saving time and improving data accuracy. This talk will review the progress of the initiative; discuss the benefits to organizations using open source and share information on how you can contribute.

Virtuaaliorganisaation toiminta innovaationäkökulmasta: kommunikaatio, tietojärjestelmät ja työkalut

Tutkimuksessa perehdytään virtuaaliorganisaatioiden ja virtuaalitiimien toimintaan sekä etsitään työkaluja, joilla maantieteellisesti hajallaan olevat ryhmät pystyvät kommunikoimaan ja jakamaan tietoa keskenään. Työssä käsitellään myös ympäristöjä, jotka tukevat virtuaaliyhteistyön syntyä. Lisäksi työssä etsitään keinoja, joilla yhteistyötä tekevät yritykset pystyvät yhdistämään tietojärjestelmiään ja luomaan niistä läpinäkyviä koko yhteistyöverkostossa. Tavoitteena on luoda laaja-alainen johdatuspaketti yhteistyötä aloittaville yrityksille ja esitellä keskeisiä virtuaalityöskentelyyn liittyviä elementtejä, kutenryhmädynamiikkaa, kollektiivista muistia, tiedon läpinäkyvyyttä, yhteistyöohjelmistoja ja yhteistyön syntyyn vaikuttavia tekijöitä. Työ on suurelta osin teoriapohjaista, mutta sen tukemiseksi on liitetty työtä varten hankittua empiiristä aineistoa. Empiria on koottu haastattelemalla yrityksiä ja asiantuntijoita. Työn tuloksena saatiin seuraavanlaisia johtopäätöksiä: virtuaalityöskentely eroaa perinteisestä tiimitoiminnasta siten, että suurin osa kommunikoinnista tapahtuu sähköisesti. Tähän tarvitaan työkaluja, joissa kuitenkin on vielä kehitettävää esimerkiksi standardoinnin suhteen. Yhteistyöohjelmistojen kehityksessä ja tietojärjestelmien yhdistämisessä on keskitytty vain sähköiseen tietoon, eikä olla kiinnitetty huomiota ihmisten osaamisen ja tietämyksen jakamiseen. Tätä varten viimeaikoina onkin alettu kehittämään erilaisia innovaatioympäristöjä, joista yksi on esitelty työssä. Virtuaalisesti toteutettavan yhteistyön keskeisenä elementtinä on luottamus kumppaneiden välillä ja tähän tulee kiinnittää erityistä huomiota. Innovaatioprosessin ja virtuaaliorganisaation tehokkuuden kannalta on tärkeää, että osapuolet ovat halukkaita jakamaan tietoa ja osaamista yhteisen päämäärän saavuttamiseksi. Tutkimus antaa viitteitä siitä, että pienet yritykset ovat halukkaampia jakamaan osaamistaan kuin suuret.

Fortumin strategia, rakenne ja investoinnit

Työn tarkoituksena oli tutkia Nesteen ja Imatran Voiman kehittymistä Fortumiksi sekä selvittää Fortumin toimintaa aina kevääseen 2005 saakka. Tarkastelussa pääpaino on ollut yritysten strategian, rakenteen ja investointien kehityksessä. Lisäksi tarkastelussa pyritään saamaan selville Fortumin fuusioitumisen ja jakautumisen taustoja. Tutkimuksessa käytettiin tilinpäätösanalyysin työkaluja yritysten taloudellisen kehityksen selvittämiseksi. Tutkielma jakaantuu teoreettiseen ja empiiriseen osaan. Kirjallisuudessa esitetyt näkemykset ovattutkielman teoreettisen osan perustana. Tutkimuksen empiirinen tieto perustuu yritysten julkiseen informaatioon, painottuen vuosikertomuksiin. Työn empiirisen osan pohjana olevat tilinpäätöstiedot on oikaistu käyttäen nykyisiä tilinpäätösanalyysin käytäntöjä. Näiden tietojen perusteella on laskettu työssä tulkitut tunnusluvut. Tilinpäätösanalyysillä on pyritty löytämään tunnuslukujen muutosten taustoilla olevia tekijöitä, jotka selittävät lukujen muutoksia. Tutkimuksen avulla saatiin luotua kattava kuva Imatran voiman ja Nesteen kehityksestä Fortumiksi sekä yhtiön toiminnasta kevään 2005 jakautumiseen saakka. Lopuksi kehityksestä on vedetty johtopäätökset ja arvioitu jakautumisen jälkeistä lähitulevaisuutta. Fortumin kehitys on jakautumisesta huolimatta ollut kannattavaa ainakin tunnuslukujen valossa. Jakautumisen motiivina on parantaa yritysten mahdollisuuksia saada riskirahoitusta ja samalla jakaa toimintaan kohdistuvaa riskiä. Näin molemmat yritykset pystyvät toteuttamaan strategioitaan vapaammin kuin yhdessä toimittaessa, mikä on keskeistä yritysten kasvutavoitteiden kannalta.