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Genomika ce nauka rozdil genetiki sho doslidzhuye povnij nabir geniv v organizmi genom vklyuchayuchi yih organizaciyu funkciyi ta vzayemodiyu 1 2 Shematichna kariograma lyudini Daye oglyad genomu lyudini z pronumerovanimi parami hromosom jogo osnovnimi zminami protyagom klitinnogo ciklu ugori po centru i mitohondrialnim genomom u masshtabi vnizu livoruch Zmist 1 Istoriya 2 Principi 2 1 Struktura ta organizaciya genomu 2 2 Genetichni variaciyi 2 3 Funkcionalna genomika 2 4 Dinamika ta evolyuciya genomu 2 5 Sistemna biologiya 2 6 Analiz danih i bioinformatika 3 Tehnologiyi ta metodiki 3 1 Sekvenuvannya DNK 3 2 Genomna anotaciya ta bioinformatika 3 3 Tehnologiyi redaguvannya genoma 3 4 Metodi analizu ekspresiyi geniv 4 Zastosuvannya 4 1 Ohorona zdorov ya 4 2 Naukovi doslidzhennya 4 3 Silske gospodarstvo 4 4 Ekologiya 5 Perspektivni tehnologiyi 5 1 Odnoklitinna genomika 5 2 Genomni instrumenti na osnovi CRISPR 5 3 Shtuchnij intelekt ta mashinne navchannya 5 4 Prostorova genomika 5 5 Multiomika 6 Div takozh 7 Dodatkova literatura 7 1 Knigi 7 2 Zhurnali 8 PrimitkiIstoriya Redaguvati nbsp Klitina Klitinne yadro Hromosoma DNK GenOsnovi genomiki mozhna prostezhiti do vidkrittya DNK yak spadkovogo materialu Osvaldom Everi v 1944 roci 3 ta viznachennya strukturi podvijnoyi spirali DNK Dzhejmsom Votsonom i Frensisom Krikom u 1953 roci 4 Pershij metod sekvenuvannya DNK rozroblenij Allanom Maksamom i Volterom Gilbertom i metod obrivu lancyuga rozroblenij Frederikom Sengerom z yavilis v 1977 roci 5 6 Ci metodi zrobili sekvenuvannya cilih genomiv mozhlivim Pershij povnij sekvenovanij genom buv genom virusa bakteriofaga fX174 u 1977 7 Pershij bakterialnij genom Haemophilus influenzae buv sekvenovanij u 1995 8 Ci proekti prodemonstruvali sho sekvenuvannya povnogo genomu mozhlive Proekt genomu lyudini cej mizhnarodnij doslidnickij proekt rozpochatij v 1990 roci ta zavershenij v 2003 roci mav na meti sklasti kartu vsogo genomu lyudini Proekt znachno rozkriv nashe rozuminnya genomu lyudini ta stimulyuvav rozvitok novih tehnologij 9 Rozvitok tehnologij sekvenuvannya nastupnogo pokolinnya v seredini 2000 h rokiv zdijsniv revolyuciyu v genomici rizko zbilshivshi propusknu zdatnist i znizivshi vartist 10 Z postijnim rozvitkom tehnologij sekvenuvannya ta instrumentiv bioinformatiki genomika stala odniyeyu z centralnih disciplin v biologichnih i medichnih doslidzhennyah zokrema v genetichnij inzheneriyi ta personalizovanij medicini Principi Redaguvati nbsp Genom v strukturi multiomiki sprosheno shematichno Genomika ce disciplina yaka keruyetsya kilkoma osnovnimi principami bagato z yakih vidobrazhayut shirshi principi genetiki ale zastosovuyutsya v masshtabi vsogo genomu Struktura ta organizaciya genomu Redaguvati Genom kozhnogo organizmu strukturovanij i organizovanij pevnim chinom Napriklad v eukariotiv genomi organizovani v hromosomi yaki skladayutsya z DNK shilno namotanoyi navkolo bilkiv gistoniv Cya organizaciya vplivaye na ekspresiyu ta funkciyu geniv 2 Genetichni variaciyi Redaguvati Genomi ne statichni voni mozhut vidriznyatisya mizh osobinami odnogo vidu vnaslidok mutaciyi genetichnoyi rekombinaciyi ta inshih evolyucijnih procesiv Cya genetichna variaciya mozhe vplivati na risi organizmu i ye osnovnim predmetom vivchennya genomiki 11 Funkcionalna genomika Redaguvati Ne vsi dilyanki genomu koduyut bilki Funkcionalni dilyanki genomu vklyuchayut koduyuchi dilyanki geni regulyatorni dilyanki ta nekoduyuchi poslidovnosti DNK Genomika pragne zrozumiti funkciyu cih oblastej u konteksti vsogo genomu 11 Dinamika ta evolyuciya genomu Redaguvati Genomi zminyuyutsya z chasom i ci zmini mozhna prostezhiti v istoriyi evolyuciyi Genomika mozhe dati rozuminnya cih evolyucijnih procesiv i togo yak voni sformuvali genomi suchasnih organizmiv 12 Sistemna biologiya Redaguvati Genomika diye v shirshomu konteksti sistemnoyi biologiyi yaka rozglyadaye vzayemodiyu mizh usima chastinami biologichnoyi sistemi Genomni dani mozhna vikoristovuvati dlya rozuminnya cih vzayemodij i novih vlastivostej yaki z nih vinikayut 13 14 Analiz danih i bioinformatika Redaguvati Velicheznij obsyag danih otrimanih zavdyaki genomnim doslidzhennyam potrebuye skladnogo analizu danih i metodiv bioinformatiki Ci metodi vikoristovuyutsya dlya sekvenuvannya genomiv anotuvannya geniv analizu ekspresiyi geniv ta vikonannya inshih obchislyuvalnih zavdan 15 Tehnologiyi ta metodiki Redaguvati nbsp Aparat dlya sekvenuvannya Illumina nbsp Aparat dlya sekvenuvannya Pacific Biosciences nbsp Sekvensor Oxford Nanopore Technologies Mk1cRozvitok genomiki znachno spriyav rozvitku tehnologij i metodiv yaki zrobili mozhlivim sekvenuvati analizuvati ta manipulyuvati genomami u velikomu masshtabi Sekvenuvannya DNK Redaguvati Bulo rozrobleno dekilka metodiv viznachennya poryadku nukleotidiv u poslidovnosti DNK Sekvenuvannya Sangera bulo odnim iz najpershih metodiv sho vikoristovuvalisya i vse she vikoristovuyetsya sogodni dlya nevelikih proektiv 16 Odnak tehnologiyi sekvenuvannya nastupnogo pokolinnya NGS taki yak sekvenuvannya Illumina pirosekvenuvannya ta sekvenuvannya Ion Torrent znachnoyu miroyu vitisnili sekvenuvannya Sangera dlya velikomasshtabnih proektiv zavdyaki yih visokij propusknij zdatnosti 17 Tehnologiyi sekvenuvannya tretogo pokolinnya taki yak sekvenuvannya Oxford Nanopore ta SMRT sekvenuvannya Pacific Biosciences proponuyut sekvenuvannya v realnomu chasi ta mozhlivist sekvenuvannya dovgih zchituvan 18 Genomna anotaciya ta bioinformatika Redaguvati Pislya sekvenuvannya genoma jogo neobhidno anotuvati shob identifikuvati geni ta inshi funkcionalni elementi Ce dosyagayetsya za dopomogoyu instrumentiv bioinformatiki yaki vikoristovuyut obchislyuvalni algoritmi dlya prognozuvannya roztashuvannya ta funkcij geniv 19 Krim togo bioinformatika ye nevid yemnoyu chastinoyu upravlinnya ta analizu velikih naboriv danih stvorenih genomnimi doslidzhennyami 20 Tehnologiyi redaguvannya genoma Redaguvati Taki metodi redaguvannya genoma yak CRISPR Cas9 TALEN i ZFN vikoristovuyutsya dlya vnesennya specifichnih zmin u genom zhivih klitin 21 Ci instrumenti zrobili revolyuciyu v genomici dozvolivshi doslidnikam doslidzhuvati funkciyu konkretnih geniv i stvoryuvati modelni organizmi z pevnimi genetichnimi modifikaciyami 22 Metodi analizu ekspresiyi geniv Redaguvati Ci metodi vikoristovuyutsya dlya vimiryuvannya rivniv ekspresiyi geniv u genomi Mikrochipi buli odniyeyu z pershih visokoproduktivnih tehnik rozroblenih dlya ciyeyi meti 23 Zovsim nedavno sekvenuvannya RNK RNA Seq stalo metodom viboru zavdyaki svoyij zdatnosti vimiryuvati ekspresiyu geniv z visokoyu chutlivistyu ta tochnistyu a takozh identifikuvati novi transkripti 24 Zastosuvannya RedaguvatiGaluz genomiki maye shiroke zastosuvannya v riznih sektorah spriyayuchi progresu v ohoroni zdorov ya naukovih doslidzhennyah silskomu gospodarstvi ta ekologiyi Ohorona zdorov ya Redaguvati Genomna medicina genomika zrobila revolyuciyu v ohoroni zdorov ya umozhlivivshi personalizovanu medicinu Genomni dani mozhut dopomogti peredbachiti sprijnyatlivist lyudini do pevnih zahvoryuvan sklasti plani likuvannya ta polegshiti strategiyi profilaktiki zahvoryuvan 25 26 27 Div takozh Medichna genetika Farmakogenomika ce doslidzhennya togo yak geni vplivayut na reakciyu lyudini na pevni liki Rozumiyuchi individualni genetichni variaciyi postachalniki medichnih poslug mozhut priznachati personalizovani bilsh efektivni ta bezpechni dozi likiv 28 29 30 31 Genomika raku genomni tehnologiyi zabezpechili gliboke rozuminnya genetichnoyi osnovi raku Rozuminnya genomnih zmin yaki viklikayut rak mozhe keruvati diagnostikoyu prognozom i likuvannyam 32 33 Nutrigenomika ce doslidzhennya vplivu harchovih produktiv i harchovih komponentiv na ekspresiyu geniv Cya sfera zoseredzhena na viyavlenni ta rozuminni vzayemodiyi na molekulyarnomu rivni mizh pozhivnimi rechovinami ta inshimi diyetichnimi bioaktivnimi rechovinami z genomom Rozuminnya cih vzayemodij mozhe prizvesti do personalizovanih diyetichnih rekomendacij i harchovih vtruchan na osnovi personalnih cilej shodo ekspersiyi tih chi inshih geniv 34 35 36 Div takozh Nutrigenetika Naukovi doslidzhennya Redaguvati nbsp Hronologiya proektu genomu lyudiniModelni organizmi genomika dozvolyaye vivchati modelni organizmi shob zrozumiti biologichni procesi yaki takozh mozhut vidbuvatisya v organizmi lyudini 37 Proekt genomu lyudini cej monumentalnij proekt zavershenij u 2003 roci sekvenuvav ves genom lyudini ta proklav shlyah do chislennih naukovih dosyagnen u rozuminni biologiyi ta hvorob lyudini 9 Silske gospodarstvo Redaguvati Pokrashennya silskogospodarskih kultur Genomni instrumenti vikoristovuyutsya dlya pidvishennya vrozhajnosti silskogospodarskih kultur yih harchovoyi cinnosti ta stijkosti do shkidnikiv i hvorob dopomagayuchi zadovolniti potrebi zrostayuchogo naselennya svitu v produktah harchuvannya 38 39 40 41 42 43 Rozvedennya hudobi genomika dopomagaye v rozvedenni tvarin dozvolyayuchi vidbirati tvarin iz bazhanimi oznakami takim chinom pidvishuyuchi produktivnist i stijkist do hvorob 44 Ekologiya Redaguvati nbsp Ekologichna metagenomika Environmental Shotgun Sequencing ESS A Vidbir zrazkiv iz seredovisha isnuvannya B filtraciya chastinok yak pravilo za rozmirom C ekstrakciya ta lizis DNK D klonuvannya ta biblioteka E sekvenuvannya kloniv F poslidovne skladannya Metagenomika ce doslidzhennya genetichnogo materialu otrimanogo bezposeredno iz zrazkiv navkolishnogo seredovisha chi mikrobiomiv organizmiv Ce dozvolyaye doslidnikam vivchati spilnoti organizmiv u yihnomu prirodnomu seredovishi Ekologichna genomika genomika mozhe dopomogti zrozumiti yak organizmi vzayemodiyut iz navkolishnim seredovishem nadayuchi rozuminnya klimatichnih zmin zabrudnennya ta inshih ekologichnih problem 45 Perspektivni tehnologiyi RedaguvatiU miru togo yak galuz genomiki prodovzhuye rozvivatisya kilka novih tehnologij obicyayut podalshu revolyuciyu v nashomu rozuminni genomu Odnoklitinna genomika Redaguvati Odnoklitinna genomika dozvolyaye analizuvati genomnij vmist okremih klitin Cya tehnologiya daye zmogu zrozumiti genetichnu ta epigenetichnu geterogennist u tkaninah i mozhe viyaviti unikalnu klitinnu povedinku yaku mozhna useredniti pid chas masovogo analizu 46 47 48 49 50 Genomni instrumenti na osnovi CRISPR Redaguvati Rozrobka sistem CRISPR Cas revolyucionizuvala nashu zdatnist redaguvati genomi Krim togo adaptaciya cih sistem dozvolyaye zdijsnyuvati cilespryamovani modifikaciyi ta manipulyaciyi z epigenomom 51 div takozh Epigenomika transkriptomom 52 i navit proteomom 53 takim chinom rozshiryuyuchi instrumentarij dostupnij genomnim doslidnikam Shtuchnij intelekt ta mashinne navchannya Redaguvati Zastosuvannya metodiv shtuchnogo intelektu ta mashinnogo navchannya do genomnih danih mozhe dopomogti viyaviti zakonomirnosti ta zrobiti prognozi yaki lyudyam bulo b nemozhlivo pomititi Ci instrumenti mozhut dopomogti v interpretaciyi skladnih genomnih danih i priskoriti vidkrittya 54 55 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