Sustainable Value Creation in Commercialisation of Innovation : The Case Auria Biobank

The purpose of this study is to examine how different logics of commercialisation are part of sustainable value creation in an emerging area of healthcare. This paper presents an inductive interpretative case study to examine the emerging field of personalised medicine from the perspective of a biobank seeking to create value on its depository of tissue samples, patient records, and digitised data. This study increases our understanding of the challenges and opportunities faced by a company when developing innovations in healthcare. It contributes to the literature on the commercialisation of innovation by exploring how sustainable value creation in an emerging industry builds on both planned and emergent commercialisation activities and how different logics of commercialisation are a part of sustainable value creation in personalised medicine.Peer reviewe

Commercialization of Biobank Data : The Case Auria Biobank

Peer reviewe

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation

Correction: Volume: 25 Issue: 8 Pages: 1901-1903 DOI: 10.1038/s41380-019-0529-7The Alzheimer's Disease Sequencing Project (ADSP) undertook whole exome sequencing in 5,740 late-onset Alzheimer disease (AD) cases and 5,096 cognitively normal controls primarily of European ancestry (EA), among whom 218 cases and 177 controls were Caribbean Hispanic (CH). An age-, sex- andAPOEbased risk score and family history were used to select cases most likely to harbor novel AD risk variants and controls least likely to develop AD by age 85 years. We tested ~1.5 million single nucleotide variants (SNVs) and 50,000 insertion-deletion polymorphisms (indels) for association to AD, using multiple models considering individual variants as well as gene-based tests aggregating rare, predicted functional, and loss of function variants. Sixteen single variants and 19 genes that met criteria for significant or suggestive associations after multiple-testing correction were evaluated for replication in four independent samples; three with whole exome sequencing (2,778 cases, 7,262 controls) and one with genome-wide genotyping imputed to the Haplotype Reference Consortium panel (9,343 cases, 11,527 controls). The top findings in the discovery sample were also followed-up in the ADSP whole-genome sequenced family-based dataset (197 members of 42 EA families and 501 members of 157 CH families). We identified novel and predicted functional genetic variants in genes previously associated with AD. We also detected associations in three novel genes:IGHG3(p = 9.8 x 10(-7)), an immunoglobulin gene whose antibodies interact with beta-amyloid, a long non-coding RNAAC099552.4(p = 1.2 x 10(-7)), and a zinc-finger proteinZNF655(gene-based p = 5.0 x 10(-6)). The latter two suggest an important role for transcriptional regulation in AD pathogenesis.Peer reviewe

Characterising the loss-of-function impact of 5' untranslated region variants in 15,708 individuals

Upstream open reading frames (uORFs) are tissue-specific cis-regulators of protein translation. Isolated reports have shown that variants that create or disrupt uORFs can cause disease. Here, in a systematic genome-wide study using 15,708 whole genome sequences, we show that variants that create new upstream start codons, and variants disrupting stop sites of existing uORFs, are under strong negative selection. This selection signal is significantly stronger for variants arising upstream of genes intolerant to loss-of-function variants. Furthermore, variants creating uORFs that overlap the coding sequence show signals of selection equivalent to coding missense variants. Finally, we identify specific genes where modification of uORFs likely represents an important disease mechanism, and report a novel uORF frameshift variant upstream of NF2 in neurofibromatosis. Our results highlight uORF-perturbing variants as an under-recognised functional class that contribute to penetrant human disease, and demonstrate the power of large-scale population sequencing data in studying non-coding variant classes. Upstream open reading frames (uORFs), located in 5' untranslated regions, are regulators of downstream protein translation. Here, Whiffin et al. use the genomes of 15,708 individuals in the Genome Aggregation Database (gnomAD) to systematically assess the deleteriousness of variants creating or disrupting uORFs.Peer reviewe

OPISKELIJOIDEN MOBIILIPALVELUTARPEIDEN SELVITTÄMINEN : Case: JAMK tietohallinto

Tietojenkäsittelyn maailma on kokenut viime vuosina suuria mullistuksia kiitos mobiiliteknologian nopean kehityksen. Tämän mullistuksen myötä on markkinoille ilmestynyt joukko mobiilipäätelaitteita, joissa on Internet-yhteys ja yhä enemmän ominaisuuksia. Lisäksi laitteiden jatkuvasti laskevat hinnat ovat osaltaan lisänneet niiden suosiota. Mobiililaitteiden suosion kasvun myötä ihmiset ovat alkaneet myös käyttää yhä enemmän mobiililaitteidensa sovelluksia. Onkin ennustettu, että mobiilisovelluksien käyttäminen tulee pian ohittamaan perinteisen pöytätietokoneiden kautta tapahtuvan Internetin käytön. Jyväskylän ammattikorkeakoulun tietohallinto haluaa olla mukana tässä kehityksessä ja tarjota asiakkailleen (henkilökunta ja opiskelijat) palveluitaan myös mobiililaitteisiin. Tämän opinnäytetyön aiheena onkin kartoittaa JAMKin tietohallinnolle sen suurimman asiakaskohderyhmän eli opiskelijoiden tottumuksia mobiililaitteiden käytössä ja toiveita siitä, mitä palveluita he haluaisivat mobiililaitteilla käytettäviksi. Kartoitusta varten tehtiin kyselytutkimus, jossa lokakuun 2012 aikana haastateltiin 30:tä JAMKin opiskelijaa. Haastatteluun vastanneista suurimmalla osalla oli jokin tutkimuksessa määritellyistä mobiililaitteista, ja he olivat myös kiinnostuneita saamaan JAMKin palveluita käytettäviksi näille laitteille. Kuitenkaan kaikilla vastanneilla ei ollut määriteltyjä laitteita, eikä heistä puolet ollut kyselyä suoritettaessa suunnitellut sellaista hankkivansa. Haastateltavat toivoivatkin, ettei mobiilipalveluita alettaisi tarjota perinteisten pöytätietokoneille suunnattujen palveluiden kustannuksella. Lisäksi opinnäytetyössä tutkittiin mobiiliteknologian yleistymistä viime vuosina ja sitä miten se on vaikuttanut ihmisten tottumuksiin käyttää erilaisia sähköisiä palveluita. Tutkimuksen tarkoituksena olla taustatutkimus jonka pohjalta JAMKin tietohallinto voi lähteä suunnittelemaan tulevaa mobiilipalveluiden tarjontaa.Due to the fast improvement of mobile technology in recent years, the world of data processing has been under of a great revolution. Within this revolution a group of mobile devices with Web access and more and more features has been released. Thanks to downward price level, the popularity of these devices has increased with it; people have also started to use applications on their devices. It has been predicted that the time used with mobile applications will soon pass the time with desktop web. The data administration at JAMK wants to be progressive and offer its customers (personnel and students) services also in mobile devices. The purpose of this bachelor’s thesis was to research for JAMK’s data administration its greatest customer group, students, their routines to use mobile devices and find out what services they wish to have on their mobile devices. During October 2012 a research was conducted where 30 JAMK students were interviewed. Most of the interviewees owned a mobile device as defined in the research and they were interested in having JAMK services on those devices. However, not every interviewee owned devices defined in the study and during the interview, half of them stated they were not going to buy one. The interviewees wished that mobile services will not take the focus off desktop services. The bachelor’s thesis also includes study on the effects of mobile technology and how it has affected people’s routine to use different kind of electronic services. The purpose of this research is to be present background information which can be utilized as a basis for further development of mobile services at JAMK

Katsomoelementin asennus

Yhteiskunnan kehittyessä ja kasvaessa kaupunkien julkisten rakennusten tarve nousee. Tällöin myös urheiluareenoiden katsomoiden koko kasvaa suuremmaksi entisajan katsomoista. Elementtituotannon ollessa yleistä nykypäivänä on katsomoiden rakentamiseen kehitetty betoninen L-muotoinen katsomoelementti. Tällä hetkellä tämän tyyppisen elementin asentamisen työvaiheista löytyy niukasti tietoa, joka helpottaisi työmaan työvaihesuunnittelua. Opinnäytetyön tavoitteena oli tuoda enemmän perustietoa työmaan näkökulmasta elementin asennuskaaresta siitä hetkestä alkaen, kun se saapuu työmaalle ja siihen hetkeen, kun se on valmiina rakenneosana katsomossa. Opinnäytetyössä syvennytään betonisen L-muotoisen katsomoelementin ominaispiirteisiin, elementin kokoon sekä muotoon ja työmaalla elementin käsittelyyn, kuten sen vaatimaan tilantarpeeseen ja säilytykseen. Edellisten lisäksi tässä opinnäytetyössä tarkastellaan esimerkkikohteen avulla elementin asennusta aina tarvittavasta nostovälineistöstä elementin ankkurointiin ja viimeistelyyn. Opinnäytetyössä aihetta käsitellään läpi työn tuotannollisesta näkökulmasta työmaan tarpeisiin. Työmaan tuotannollinen näkökulma korostuu työssä niin, ettei työssä perehdytä suurelta osin elementin valmistukseen tai suunnitteluun. Työssä käydään läpi myös elementtien asennukseen kuluvaa ajallista tavoitetta sekä elementtien logistisen ja varastoimisen tarpeen arvioimista ja toteuttamista.As society develops and grows, the need for public buildings in cities increases. During the growth of society, the size of the stands in sports arenas will also grow larger than the audience stands in the past. As prefab production is common nowadays, a concrete L-shaped grandstand element has been developed for the construction of grandstands. Currently there is little information about the work stages of installing this type of element, which would facilitate the work stage planning of the construction site. The aim of this thesis was to bring more basic information from the construction site perspective about the installation arc of the element from the moment it arrives at the construction site to the moment it is ready as a structural part in the stand. In the thesis, I am taking a deeper sight into the characteristics of the concrete L-shaped grandstand element, the size and shape of the element, and the handling of the element at the construction site, such as the space it requires and storage. In addition to the previous ones, this thesis deals with the installation of the element with the help of an example construction site, from the necessary lifting equipment to the anchoring and finishing of the element. The subject of my thesis is discussed throughout from the production point of view to the needs of construction site and its management. The productive point of view of the construction site is emphasized in my work so that the work does not deal with the manufacturing or design of the element for the most part. My work also deals with the time target required for the installation of the elements, as well as the evaluation and implementation of the need for logistics and storage of the elements

The role of oxytocinergic genes in the intergenerational transmission of parent-child relationship qualities

Parenting qualities are known to transmit across generations, but less is known about genetic processes that may modify how strongly parenting quality carries across generations. We examined in prospective data whether oxytocinergic genes of offspring moderate the intergenerational transmission of warm and accepting parent-child relationship qualities. The sample comprised 1167 Finnish parents (G2, 62% female) and their mothers (G1). At the study baseline, G1 mothers (Mage = 38) reported parent-child relationship qualities towards G2 children (age range 3-18). After 28-34 years, G2 offspring reported parent-child relationship qualities towards their own children using the same questionnaire. A cumulative genetic score was computed for G2 by summing up previously identified four alleles associated with non-optimal parenting or social impairments across OXTR (rs1042778, rs2254298, rs53576) and CD38 (rs3796863) genes. Results indicated no interaction effects of G2 cumulative genetic score on the transmission of parent-child relationship qualities. Among single polymorphisms in OXTR, the interaction effects of rs53576 and rs1042778 were found. G1 maternal emotional warmth was associated with higher G2 emotional warmth among G2 participants with the OXTR rs53576 AA/AG genotype, but not among those with the GG genotype. G1 maternal acceptance was associated with higher G2 acceptance among those G2 participants with the OXTR rs1042778 GG/GT genotype, but not among those with the TT genotype. Oxytocinergic genes may influence sensitivity to quality of parent-child relationship, although this needs replication in future studies.Peer reviewe

Cross-sectionally calculated metabolic aging does not relate to longitudinal metabolic changes:support for stratified aging models

Abstract Context: Aging varies between individuals, with profound consequences for chronic diseases and longevity. One hypothesis to explain the diversity is a genetically regulated molecular clock that runs differently between individuals. Large human studies with long enough follow-up to test the hypothesis are rare due to practical challenges, but statistical models of aging are built as proxies for the molecular clock by comparing young and old individuals cross-sectionally. These models remain untested against longitudinal data. Objective: We applied novel methodology to test if cross-sectional modeling can distinguish slow vs accelerated aging in a human population. Methods: We trained a machine learning model to predict age from 153 clinical and cardiometabolic traits. The model was tested against longitudinal data from another cohort. The training data came from cross-sectional surveys of the Finnish population (n = 9708; ages 25-74 years). The validation data included 3 time points across 10 years in the Young Finns Study (YFS; n = 1009; ages 24-49 years). Predicted metabolic age in 2007 was compared against observed aging rate from the 2001 visit to the 2011 visit in the YFS dataset and correlation between predicted vs observed metabolic aging was determined. Results: The cross-sectional proxy failed to predict longitudinal observations (R2 = 0.018%, P = 0.67). Conclusion: The finding is unexpected under the clock hypothesis that would produce a positive correlation between predicted and observed aging. Our results are better explained by a stratified model where aging rates per se are similar in adulthood but differences in starting points explain diverging metabolic fates