”Se on ihan niinko ohjaajasta kiinni, että minkälainen harjottelu tulee olemaan”:harjoittelukokemuksen kannalta merkitykselliset seikat luokanopettajaopiskelijan silmin

Tiivistelmä. Opetusharjoittelu on tärkeä osa luokanopettajaopintoja. Se on monelle opiskelijalle ensimmäisiä kosketuksia kouluelämään opettajan roolissa ja siitä syntyvä kokemus vaikuttaa siihen, millaiseksi opiskelijan opettajaidentiteetti muodostuu ja itsevarmuus kehittyy. Monen luokanopettajaopiskelijan mielestä harjoittelu on merkittävin osa opintoja. Tutkimme pro gradu -tutkielmassamme luokanopettajaopiskelijoiden ajatuksia siitä, mitkä asiat heidän mielestään ovat merkittäviä opetusharjoittelukokemuksen kannalta. Koska ohjaaminen on merkittävä osa harjoittelua, keskitymme teoreettisessa viitekehyksessä etenkin sen ja ohjaussuhteen tarkasteluun, sekä ohjaajan ja opiskelijan vuorovaikutukseen. Lisäksi teemme katsauksen luokanopettajien opintoihin kuuluviin harjoitteluihin niin Suomessa, kuin kansainvälisessä kontekstissa, sekä tarkastelemme sitä, miten harjoittelukokemus ylipäätään syntyy. Tutkielma on toteutettu kvalitatiivisen tutkimuksen menetelmillä, aineistolähteistä sisällönanalyysia sekä fenomenologista otetta hyödyntäen. Aineisto on kerätty haastattelemalla kuutta luokanopettajaopiskelijaa tai vasta valmistunutta luokanopettajaa. Suurin osa haastatteluista toteutettiin puhelimitse. Tutkielmamme keskeiset tulokset osoittavat, että harjoittelukokemuksen kannalta merkittävistä asioista ohjaussuhde on suurimmassa roolissa. Lisäksi ohjaajan merkitys harjoittelukokemuksen kannalta on huomattava jo senkin vuoksi, että ohjaajalla on koettu olevan suuri merkitys jo pelkän ohjaussuhteen kannalta. Myös opiskelijan oman kasvun merkitys harjoittelukokemuksen kannalta tunnistettiin. Etenkin niissä tapauksissa, joissa opiskelijat olivat kokeneet ongelmia ohjaussuhteen toimivuudessa, korostuivat myös muiden seikkojen, kuten toisten opiskelijoiden ja harjoitteluluokan oppilaiden merkitys

Taming the massive genome of Scots pine with PiSy50k, a new genotyping array for conifer research

Pinus sylvestris (Scots pine) is the most widespread coniferous tree in the boreal forests of Eurasia, with major economic and ecological importance. However, its large and repetitive genome presents a challenge for conducting genome-wide analyses such as association studies, genetic mapping and genomic selection. We present a new 50K single-nucleotide polymorphism (SNP) genotyping array for Scots pine research, breeding and other applications. To select the SNP set, we first genotyped 480 Scots pine samples on a 407 540 SNP screening array and identified 47 712 high-quality SNPs for the final array (called 'PiSy50k'). Here, we provide details of the design and testing, as well as allele frequency estimates from the discovery panel, functional annotation, tissue-specific expression patterns and expression level information for the SNPs or corresponding genes, when available. We validated the performance of the PiSy50k array using samples from Finland and Scotland. Overall, 39 678 (83.2%) SNPs showed low error rates (mean = 0.9%). Relatedness estimates based on array genotypes were consistent with the expected pedigrees, and the level of Mendelian error was negligible. In addition, array genotypes successfully discriminate between Scots pine populations of Finnish and Scottish origins. The PiSy50k SNP array will be a valuable tool for a wide variety of future genetic studies and forestry applications.Peer reviewe

Developing a spatially explicit modelling and evaluation framework for integrated carbon sequestration and biodiversity conservation: application in southern Finland

The challenges posed by climate change and biodiversity loss are deeply interconnected. Successful co-managing of these tangled drivers requires innovative methods that can prioritize and target management actions against multiple criteria, while also enabling cost-effective land use planning and impact scenario assessment. This paper synthesises the development and application of an integrated multidisciplinary modelling and evaluation framework for carbon and biodiversity in forest systems. By analysing and spatio-temporally modelling carbon processes and biodiversity elements, we determine an optimal solution for their co-management in the study landscape. We also describe how advanced Earth Observation measurements can be used to enhance mapping and monitoring of biodiversity and ecosystem processes. The scenarios used for the dynamic models were based on official Finnish policy goals for forest management and climate change mitigation. The development and testing of the system were executed in a large region in southern Finland (Kokemäenjoki basin, 27 024 km2) containing highly instrumented LTER (Long-Term Ecosystem Research) stations; these LTER data sources were complemented by fieldwork, remote sensing and national data bases. In the study area, estimated total net emissions were currently 4.2 TgCO2eq a-1, but modelling of forestry measures and anthropogenic emission reductions demonstrated that it would be possible to achieve the stated policy goal of carbon neutrality by low forest harvest intensity. We show how this policy-relevant information can be further utilised for optimal allocation of set-aside forest areas for nature conservation, which would significantly contribute to preserving both biodiversity and carbon values in the region. Biodiversity gain in the area could be increased without a loss of carbon-related benefits.The challenges posed by climate change and biodiversity loss are deeply interconnected. Successful co-managing of these tangled drivers requires innovative methods that can prioritize and target management actions against multiple criteria, while also enabling cost-effective land use planning and impact scenario assessment. This paper synthesises the development and application of an integrated multidisciplinary modelling and evaluation framework for carbon and biodiversity in forest systems. By analysing and spatio-temporally modelling carbon processes and biodiversity elements, we determine an optimal solution for their co-management in the study landscape. We also describe how advanced Earth Observation measurements can be used to enhance mapping and monitoring of biodiversity and ecosystem processes. The scenarios used for the dynamic models were based on official Finnish policy goals for forest management and climate change mitigation. The development and testing of the system were executed in a large region in southern Finland (Kokemäenjoki basin, 27,024 km2) containing highly instrumented LTER (Long-Term Ecosystem Research) stations; these LTER data sources were complemented by fieldwork, remote sensing and national data bases. In the study area, estimated total net emissions were currently 4.2 TgCO2eq a−1, but modelling of forestry measures and anthropogenic emission reductions demonstrated that it would be possible to achieve the stated policy goal of carbon neutrality by low forest harvest intensity. We show how this policy-relevant information can be further utilized for optimal allocation of set-aside forest areas for nature conservation, which would significantly contribute to preserving both biodiversity and carbon values in the region. Biodiversity gain in the area could be increased without a loss of carbon-related benefits.Peer reviewe

Seikkailupedagogiikka kasvatuksen muotona

Tämä kandidaatintutkielma käsittelee seikkailupedagogiikkaa ja sen käyttöä kasvatuksessa. Kirjallisuuskatsauksen keinoin pyrimme selvittämään seikkailupedagogiikan olemusta. Esittelemme johdannossa tutkimuskysymyksemme ja sen, kuinka päädyimme meitä kiinnostavaan aiheeseen, josta päätimme tehdä tutkielmamme. Jatkamme esittelemällä tärkeitä kasvatuksen kentän käsitteitä, joilla pohjustamme aihettamme ja löydämme sille pohjan kasvatustieteen käsityksestä kasvatuksesta, sivistyksestä ja pedagogiikasta. Käsittelemme lisäksi seikkailupedagogiikkaan itseensä liittyviä käsitteitä, kuten elämystä, kokemusta ja seikkailua. Perehdymme seikkailupedagogiikan syvempään tarkoitukseen sekä sen toimimisen ja käyttämisen edellytyksiin. Huomaamme seikkailupedagogiikan yhteyden kokemusperäiseen opetukseen, ja myös sosiologian ja psykologian teorioihin. Löydämme seikkailupedagogiikan pedagogisen teorian ytimen toiminnan intentiosta ja reflektiosta, ja määrittelemme seikkailupedagogisen toiminnan tavoitteita, kuten oppilaan fyysisen, psyykkisen ja emotionaalisen kehittymisen. Lopuksi lähdemme etsimään vastauksia seikkailupedagogiikan soveltamiseen käytännön kasvatuksessa. Huomaamme, että seikkailupedagogiikan käyttäminen edellyttää opettajalta paneutumista, mutta toisaalta se on oppilaille mieluinen ja luonnollinen oppimismuoto. Mieluisuuden ja luonnollisuuden lisäksi seikkailupedagogiikasta löytyy monia muitakin vahvuuksia, mutta on sillä ongelmakohtansakin

Exome sequencing identifies a recurrent variant in SERPINA3 associating with hereditary susceptibility to breast cancer

Abstract Background: Breast cancer is strongly influenced by hereditary risk factors. Yet, the known susceptibility genes and genomic loci explain only about half of the familial component of the disease. To identify novel breast cancer predisposing gene defects, here we have performed massive parallel sequencing for Northern Finnish breast cancer cases. Methods: Ninety-eight breast cancer cases with indication of hereditary disease susceptibility were exome sequenced. Data filtering strategy focused on predictably deleterious rare variants that were still enriched in the sequenced cohort. Findings were confirmed with additional, geographically matched breast cancer cohorts. Results: A recurrent heterozygous splice acceptor variant, c.918-1G>C, in SERPINA3, was identified, and it was significantly enriched both in the hereditary (6/201, 3.0%, p = 0.006, OR 5.1, 95% CI 1.7–14.8) and unselected breast cancer cohort (26/1569, 1.7%, p = 0.009, OR 2.8, 95% CI 1.3–6.2). SERPINA3 c.918-1G>C carriers were also significantly more likely to have a rare tumor subtype, medullary breast cancer, than the non-carriers (4/26, 15.4%, p = 0.000014, OR 42.9, 95% CI 11.7–157.1). Conclusion: These findings demonstrate that c.918-1G>C germline variant in SERPINA3 gene, encoding a member of the serine protease inhibitor class, is a novel breast cancer predisposing allele

Optical genome mapping as an alternative to FISH-based cytogenetic assessment in chronic lymphocytic leukemia

Abstract The fluorescence in situ hybridization (FISH) technique plays an important role in the risk stratification and clinical management of patients with chronic lymphocytic leukemia (CLL). For genome-wide analysis, FISH needs to be complemented with other cytogenetic methods, including karyotyping and/or chromosomal microarrays. However, this is often not feasible in a diagnostic setup. Optical genome mapping (OGM) is a novel technique for high-resolution genome-wide detection of structural variants (SVs), and previous studies have indicated that OGM could serve as a generic cytogenetic tool for hematological malignancies. Herein, we report the results from our study evaluating the concordance of OGM and standard-of-care FISH in 18 CLL samples. The results were fully concordant between these two techniques in the blinded comparison. Using in silico dilution series, the lowest limit of detection with OGM was determined to range between 3 and 9% variant allele fractions. Genome-wide analysis by OGM revealed additional (>1 Mb) aberrations in 78% of the samples, including both unbalanced and balanced SVs. Importantly, OGM also enabled the detection of clinically relevant complex karyotypes, undetectable by FISH, in three samples. Overall, this study demonstrates the potential of OGM as a first-tier cytogenetic test for CLL and as a powerful tool for genome-wide SV analysis

Evaluating the role of NTHL1 p.Q90* allele in inherited breast cancer predisposition

Abstract Background: Rare protein truncating variants of NTHL1 gene are causative for the recently described, recessively inherited NTHL1 tumor syndrome that is characterized by an increased lifetime risk for colorectal cancer, colorectal polyposis, and breast cancer. Although there is strong evidence for breast cancer being a part of the cancer spectrum in these families, the role of pathogenic NTHL1 variants in breast cancer susceptibility in general population remains unclear. Methods: We tested the prevalence of NTHL1 nonsense variant c.268C>T, p.Q90*, which is the major allele in NTHL1 families and also shows enrichment in the Finnish population, in a total of 1333 breast cancer patients. Genotyping was performed for DNA samples extracted from peripheral blood by using high‐resolution melt analysis. Results: Sixteen NTHL1 p.Q90* heterozygous carriers were identified (1.2%, p = 0.61): 5 in hereditary cohort (n = 234, 2.1%, p = 0.39) and 11 in unselected cohort (n = 1099, 1.0%, p = 0.36). This frequency is equal to that in the general population (19/1324, 1.4%). No NTHL1 p.Q90* homozygotes were identified. Conclusion: Our results indicate that NTHL1 p.Q90* heterozygous carriers do not have an increased risk for breast cancer and that the variant is unlikely to be a significant contributor to breast cancer risk at the population level

Evaluating the role of CHEK2 p.(Asp438Tyr) allele in inherited breast cancer predisposition

Abstract CHEK2 is a well-established breast cancer susceptibility gene. The most frequent pathogenic CHEK2 variant is 1100delC, a loss-of-function mutation conferring 2-fold risk for breast cancer. This gene also harbors other rare variants encountered in the clinical gene panels for hereditary cancer. One of these is CHEK2 c.1312 G > T, p.(Asp438Tyr) in the kinase domain of the protein, but due to its rarity its clinical significance for breast cancer predisposition has remained unclear. Here, we tested the prevalence of CHEK2 p.(Asp438Tyr) allele showing enrichment in the Northern Finnish population, in a total of 2284 breast cancer patients from this geographical region. Genotyping was performed for DNA samples extracted from peripheral blood using high-resolution melt analysis. Fourteen CHEK2 p.(Asp438Tyr) carriers were identified (14/2284, 0.6%, P = 0.67): two in the cohort of breast cancer cases with the indication of inherited disease susceptibility (2/281, 0.7%, P = 1.00) and twelve in the breast cancer cohort unselected for the family history of disease and age at disease onset (12/2003, 0.6%, P = 0.66). This frequency did not differ from the frequency in the general population (10/1299, 0.8%). No CHEK2 p.(Asp438Tyr) homozygotes were identified. Our results indicate that CHEK2 p.(Asp438Tyr) carriers do not have an increased risk for breast cancer and the classification of the CHEK2 p.(Asp438Tyr) variant can be changed from the variant of uncertain significance (VUS) to likely benign for breast cancer

Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility

Abstract TINF2 is a critical subunit of the shelterin complex, which protects and maintains the length of telomeres. Pathogenic missense and truncating TINF2 mutations are causative for dyskeratosis congenita (DC), a rare, dominantly inherited bone marrow failure syndrome characterized by mucocutaneous abnormalities and cancer predisposition. Recent reports indicate that specific TINF2 truncating mutations act as high penetrance cancer predisposition alleles outside DC context, including breast cancer in their tumor spectrum. Here, we have evaluated the role of germline mutations in TINF2 and other shelterin genes in inherited breast cancer susceptibility using exome sequencing data from 98 Northern Finnish breast cancer cases with indication of inherited disease predisposition as a discovery cohort. A single protein truncating variant, TINF2 p.Tyr312Ter, was identified in one of the cases (1/98), and four more carriers were observed in the subsequently genotyped unselected breast cancer cohort (4/1904). None of the carriers were reported to have DC. TINF2 p.Tyr312Ter resulted in stable short form of mRNA transcript, and normal telomere length has been indicated by a recent report. Although recurrent in cases (total of 5/2095), TINF2 p.Tyr312Ter is also present in Finnish population controls (8/12,517), and the observed 4-fold higher frequency in cases falls at most into the range of moderate breast cancer risk alleles (OR 3.74, 95% CI 1.22–11.45, p = 0.029). Current results indicate that not all TINF2 truncating variants are high cancer risk alleles and add further evidence that different TINF2 mutations can have very diverse effects on the disease phenotype

Taming the massive genome of Scots pine with PiSy50k, a new genotyping array for conifer research

Abstract Pinus sylvestris (Scots pine) is the most widespread coniferous tree in the boreal forests of Eurasia, with major economic and ecological importance. However, its large and repetitive genome presents a challenge for conducting genome-wide analyses such as association studies, genetic mapping and genomic selection. We present a new 50K single-nucleotide polymorphism (SNP) genotyping array for Scots pine research, breeding and other applications. To select the SNP set, we first genotyped 480 Scots pine samples on a 407 540 SNP screening array and identified 47 712 high-quality SNPs for the final array (called ‘PiSy50k’). Here, we provide details of the design and testing, as well as allele frequency estimates from the discovery panel, functional annotation, tissue-specific expression patterns and expression level information for the SNPs or corresponding genes, when available. We validated the performance of the PiSy50k array using samples from Finland and Scotland. Overall, 39 678 (83.2%) SNPs showed low error rates (mean = 0.9%). Relatedness estimates based on array genotypes were consistent with the expected pedigrees, and the level of Mendelian error was negligible. In addition, array genotypes successfully discriminate between Scots pine populations of Finnish and Scottish origins. The PiSy50k SNP array will be a valuable tool for a wide variety of future genetic studies and forestry applications