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[{"key": "dc.contributor.advisor", "value": "Isom\u00f6tt\u00f6nen, Ville", "language": "", "element": "contributor", "qualifier": "advisor", "schema": "dc"}, {"key": "dc.contributor.author", "value": "Mustonen, Marina", "language": "", "element": "contributor", "qualifier": "author", "schema": "dc"}, {"key": "dc.date.accessioned", "value": "2019-12-19T06:28:19Z", "language": null, "element": "date", "qualifier": "accessioned", "schema": "dc"}, {"key": "dc.date.available", "value": "2019-12-19T06:28:19Z", "language": null, "element": "date", "qualifier": "available", "schema": "dc"}, {"key": "dc.date.issued", "value": "2019", "language": "", "element": "date", "qualifier": "issued", "schema": "dc"}, {"key": "dc.identifier.uri", "value": "https://jyx.jyu.fi/handle/123456789/66960", "language": null, "element": "identifier", "qualifier": "uri", "schema": "dc"}, {"key": "dc.description.abstract", "value": "Kaupallisten geenitestien tarjonnan kasvu ja kokonaisten genomien sekvensoinnin muuttuminen yh\u00e4 helpommaksi ja halvemmaksi mahdollistavat geneettisen tiedon hy\u00f6dynt\u00e4misen l\u00e4\u00e4ketieteess\u00e4. T\u00e4st\u00e4 on paljon hy\u00f6ty\u00e4 terveydenhoidossa, mutta siihen liittyy my\u00f6s haasteita. Haasteita tuovat mm. geeniteknologian tuottamien suurten datam\u00e4\u00e4rien varastointi, jakaminen ja k\u00e4sittely, geneettisen datan analysointi niin, ett\u00e4 oleellinen tieto saadaan selville ja monimutkaisen geneettisen datan tulkitseminen ja visualisointi ymm\u00e4rrett\u00e4v\u00e4ss\u00e4 muodossa. Geneettisen datan suojaaminen on my\u00f6s yksi suuri haaste l\u00e4\u00e4ketieteellisess\u00e4 genetiikassa. Tehokkaat ja hyvin suunnitellut digitaaliset ty\u00f6kalut voivat auttaa n\u00e4iss\u00e4 haasteissa, ja uusille ty\u00f6kaluille onkin kasvava tarve, kun l\u00e4\u00e4ketieteellinen genetiikka yleistyy. T\u00e4ss\u00e4 tutkimuksessa pyrin tekem\u00e4\u00e4n systemaattisen kartoituksen l\u00e4\u00e4ketieteellisen genetiikan digitaalisista ty\u00f6kaluista ja vastaamaan kysymyksiin siit\u00e4, millaisia tutkimuksia aiheesta on, millainen teknologinen fokus niiss\u00e4 on, onko datan suojaamista k\u00e4sitelty artikkeleissa ja mink\u00e4 tyyppisiss\u00e4 tieteellisiss\u00e4 lehdiss\u00e4 artikkeleita on julkaistu. Tuloksista selvi\u00e4\u00e4, ett\u00e4 suurin osa artikkeleista on validointitutkimuksia. T\u00e4m\u00e4 tulos johtuu luultavasti osittain siit\u00e4, miten kriteerit artikkelin mukaan ottamiseen on m\u00e4\u00e4ritetty ja miten kategorisointi on tehty. Suurin osa artikkeleista k\u00e4sittelee geneettisen datan esik\u00e4sittely\u00e4 ja analysointia, mik\u00e4 johtuu luultavasti siit\u00e4, ett\u00e4 geneettist\u00e4 dataa on niin monenlaista ja sen analysointi on vaikeaa, jolloin on tarvetta monille erilaisille digitaalisille ty\u00f6kaluille auttamaan siin\u00e4. Datan suojaamista ei k\u00e4sitell\u00e4 suurimmassa osassa artikkeleita, mutta se johtunee ainakin osittain siit\u00e4, ett\u00e4 datan suojaamisen ei katsota olevan oleellista kaiken tyyppisiss\u00e4 digitaalisissa ty\u00f6kaluissa. Suurin osa artikkeleista oli julkaistu lehdiss\u00e4, jotka liittyv\u00e4t l\u00e4\u00e4ketieteelliseen genetiikkaan (genetiikka, l\u00e4\u00e4ketiede ja bioinformatiikka) ja julkaisuja ei ollut juurikaan yleisemmin tietotekniikkaa k\u00e4sitteleviss\u00e4 lehdiss\u00e4. T\u00e4m\u00e4 johtunee siit\u00e4 ett\u00e4, l\u00e4\u00e4ketieteellisen genetiikan digitaalisia ty\u00f6kaluja k\u00e4ytt\u00e4v\u00e4t luultavasti l\u00e4hinn\u00e4 alan ammattilaiset, jotka lukevat enemm\u00e4n genetiikkaan liittyvi\u00e4 julkaisuja kuin yleisesti ohjelmistoihin keskittyvi\u00e4 lehti\u00e4.", "language": "fi", "element": "description", "qualifier": "abstract", "schema": "dc"}, {"key": "dc.description.abstract", "value": "Rise of commercial gene tests and whole-genome sequencing becoming easier and cheaper brings many benefits to health care, but also challenges. The challenges include storing, sharing and managing huge amounts of data, analyzing genetic data to find rele-vant information, and interpreting and visualizing complex genetic data. The issue of data privacy is also a major concern in medical genetics. Efficient and well-designed software can help with these challenges. In my thesis, I strive to provide a systematic mapping of the literature on medical genetics software and answer questions about what types of re-search approaches and technological focuses there are in scientific articles on the subject, is data privacy addressed in the articles, and what types of journals the articles are published in. The results show that validation is the most common research approach. This result is possibly partly due to the inclusion criteria and categorization approach used. Preprocessing and analysis of genetic data is the most common technological focus in the papers, likely due to genetic data and analysis of it being very complex and requiring dif-ferent kinds of software to help with it. Data privacy is not addressed in most of the papers, which could partly be due to it not deemed an issue in all types of software. Most of the articles were published in journals related to medical genetics, which is probably due to the genetics professionals using the software reading more journals related to their field.", "language": "en", "element": "description", "qualifier": "abstract", "schema": "dc"}, {"key": "dc.description.provenance", "value": "Submitted by Miia Hakanen (mihakane@jyu.fi) on 2019-12-19T06:28:19Z\nNo. of bitstreams: 0", "language": "en", "element": "description", "qualifier": "provenance", "schema": "dc"}, {"key": "dc.description.provenance", "value": "Made available in DSpace on 2019-12-19T06:28:19Z (GMT). No. of bitstreams: 0\n Previous issue date: 2019", "language": "en", "element": "description", "qualifier": "provenance", "schema": "dc"}, {"key": "dc.format.extent", "value": "54", "language": "", "element": "format", "qualifier": "extent", "schema": "dc"}, {"key": "dc.format.mimetype", "value": "application/pdf", "language": null, "element": "format", "qualifier": "mimetype", "schema": "dc"}, {"key": "dc.language.iso", "value": "eng", "language": null, "element": "language", "qualifier": "iso", "schema": "dc"}, {"key": "dc.rights", "value": "In Copyright", "language": "en", "element": "rights", "qualifier": null, "schema": "dc"}, {"key": "dc.subject.other", "value": "software", "language": "", "element": "subject", "qualifier": "other", "schema": "dc"}, {"key": "dc.subject.other", "value": "health care", "language": "", "element": "subject", "qualifier": "other", "schema": "dc"}, {"key": "dc.subject.other", "value": "gene test", "language": "", "element": "subject", "qualifier": "other", "schema": "dc"}, {"key": "dc.subject.other", "value": "big data", "language": "", "element": "subject", "qualifier": "other", "schema": "dc"}, {"key": "dc.title", "value": "Software tools in medical genetics : a systematic mapping study", "language": "", "element": "title", "qualifier": null, "schema": "dc"}, {"key": "dc.type", "value": "master thesis", "language": null, "element": "type", "qualifier": null, "schema": "dc"}, {"key": "dc.identifier.urn", "value": "URN:NBN:fi:jyu-201912195435", "language": "", "element": "identifier", "qualifier": "urn", "schema": "dc"}, {"key": "dc.type.ontasot", "value": "Pro gradu -tutkielma", "language": "fi", "element": "type", "qualifier": "ontasot", "schema": "dc"}, {"key": "dc.type.ontasot", "value": "Master\u2019s thesis", "language": "en", "element": "type", "qualifier": "ontasot", "schema": "dc"}, {"key": "dc.contributor.faculty", "value": "Informaatioteknologian tiedekunta", "language": "fi", "element": "contributor", "qualifier": 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