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Genome-wide Association Analysis
Sepheo sa Genome-Wide Association Studies (GWAS) ke ho khetholla mefuta ea liphatsa tsa lefutso (genotypes) e amanang le litšobotsi tse itseng (phenotypes). Ka ho hlahlobisisa matšoao a liphatsa tsa lefutso ho pholletsa le genome eohle ka palo e kholo ea batho, GWAS e eketsa mekhatlo ea genotype-phenotype ka litlhahlobo tsa lipalo-palo tsa palo ea baahi. Mokhoa ona o fumana ts'ebetso e pharaletseng ea ho etsa lipatlisiso ka mafu a batho le ho hlahloba liphatsa tsa lefutso tse sebetsang tse amanang le litšobotsi tse rarahaneng liphoofolong kapa limela.
Ho BMKGENE, re fana ka mekhoa e 'meli ea ho tsamaisa GWAS ho baahi ba bangata: ho sebelisa Whole-Genome Sequencing (WGS) kapa ho khetha mokhoa o fokotsehileng oa tatellano ea liphatsa tsa lefutso, e leng Specific-Locus Amplified Fragment (SLAF) e ntlafalitsoeng ka tlung. Le ha WGS e lumellana le liphatsa tsa lefutso tse nyane, SLAF e hlaha e le mokhoa o sa sebetseng hantle oa ho ithuta ka palo e kholo ea batho ba nang le liphatsa tsa lefutso tse telele, e fokotsang litšenyehelo tsa tatellano, ha e ntse e netefatsa ts'ebetso e phahameng ea ho sibolla matšoao a lefutso.
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Tatelano ya Genome ya Semela/Aphoofolo
Whole Genome Sequencing (WGS), e tsejoang hape e le requencing, e bua ka tatellano ea liphatsa tsa lefutso tsa batho ba fapaneng ba mefuta e nang le liphatsa tsa lefutso tse tsebahalang. Motheong ona, liphapang tsa genomic tsa batho kapa baahi li ka tsejoa hape. WGS e thusa ho tsebahatsa Single Nucleotide Polymorphism (SNP), Ho Hlakola ho Kena (InDel), Phapang ea Sebopeho (SV), le Copy Number Variation (CNV). Li-SV li na le karolo e kholoanyane ea mefuta e fapaneng ho feta li-SNP 'me li na le tšusumetso e kholo ho genome, e amang haholo lintho tse phelang. Le hoja ho pheta-pheta ha nako e khutšoanyane ho sebetsa ho khetholla SNP le InDels, ho bala nako e telele ho lumella ho tsebahatsa likaroloana tse kholo le ho fapana ho rarahaneng.
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Liphatsa tsa lefutso tsa ho iphetola ha lintho
Evolutionary Genetics ke ts'ebeletso e felletseng ea tatellano e etselitsoeng ho fana ka tlhaloso e nang le temohisiso ea ho iphetola ha lintho ka har'a sehlopha se seholo sa batho, ho ipapisitse le liphatsa tsa lefutso, ho kenyeletsoa SNPs, InDels, SVs, le CNVs. Ts'ebeletso ena e akaretsa litlhahlobo tsohle tsa bohlokoa tse hlokahalang ho hlakisa liphetoho tsa ho iphetola ha lintho le liphatsa tsa lefutso tsa baahi, ho kenyeletsoa litekolo tsa sebopeho sa baahi, phapano ea liphatsa tsa lefutso, le likamano tsa phylogenetic. Ho feta moo, e kenella lithutong tsa phallo ea liphatsa tsa lefutso, e nolofalletsang likhakanyo tsa boholo bo sebetsang ba baahi le nako ea phapano. Lithuto tsa thuto ea ho iphetola ha lintho li fana ka leseli la bohlokoa mabapi le tšimoloho le ho ikamahanya le maemo a mefuta.
Ho BMKGENE, re fana ka mekhoa e 'meli ea ho etsa lithuto tsa liphatsa tsa lefutso ho batho ba bangata: ho sebelisa tatellano ea liphatsa tsa lefutso (WGS) kapa ho khetha mokhoa o fokotsehileng oa tatellano ea liphatsa tsa lefutso, e leng Specific-Locus Amplified Fragment (SLAF) e ntlafalitsoeng ka tlung. Le ha WGS e lumellana le liphatsa tsa lefutso tse nyane, SLAF e hlaha e le mokhoa o sa jeng chelete e ngata bakeng sa ho ithuta batho ba bangata ba nang le liphatsa tsa lefutso tse telele, e leng ho fokotsa litšenyehelo tsa tatellano.
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Papiso ea Genomics
Papiso ea genomics e kenyelletsa tlhahlobo le papiso ea tatellano ea liphatsa tsa lefutso le libopeho har'a mefuta e fapaneng. Sebaka sena se batla ho senola ho iphetola ha lintho, ho khetholla mesebetsi ea liphatsa tsa lefutso, le ho hlakisa mekhoa ea taolo ea liphatsa tsa lefutso ka ho tsebahatsa libopeho le tatellano e bolokehileng kapa e fapaneng ho pholletsa le lintho tse fapaneng. Boithuto bo felletseng ba ho bapisa liphatsa tsa lefutso bo akaretsa litlhahlobo tse kang malapa a lefutso, nts'etsopele ea ho iphetola ha lintho, liketsahalo tsa ho pheta-pheta liphatsa tsa lefutso kaofela, le phello ea likhatello tse khethiloeng.
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Hi-C Based Genome Assembly
Hi-C ke mokhoa o etselitsoeng ho ts'oara tlhophiso ea chromosome ka ho kopanya litšebelisano tse thehiloeng ho proximity le tatellano ea maemo a holimo. Ho lumeloa hore matla a litšebelisano tsena a amana hampe le sebaka sa 'mele ho li-chromosome. Ka hona, data ea Hi-C e sebelisoa ho tataisa ho kopanya, ho hlophisa, le ho tsamaisa tatellano e kopaneng ho genome e hlophisitsoeng le ho tiisa tseo palo e itseng ea li-chromosome. Theknoloji ena e matlafatsa kopano ea boemo ba chromosome genome ha ho se na 'mapa oa liphatsa tsa lefutso o thehiloeng ho baahi. Genome e 'ngoe le e' ngoe e hloka Hi-C.
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Semela / Phoofolo De Novo Genome Sequencing
Ho tloha Novotatellano e bolela kaho ea mofuta oohle oa lefutso ho sebelisoa mahlale a tatellano ha ho se na genome. Kenyelletso le kamohelo e pharalletseng ea tatellano ea moloko oa boraro, e nang le lipalo tse telele, e ntlafalitse haholo kopano ea genome ka ho eketsa ho fetana lipakeng tsa ho bala. Ntlafatso ena e bohlokoa haholo ha o sebetsana le liphatsa tsa lefutso tse phephetsang, tse kang tse bonts'ang heterozygosity e phahameng, karo-karolelano e phahameng ea libaka tse ipheta-phetang, li-polyploid, le libaka tse nang le likarolo tse pheta-phetoang, litaba tse sa tloaelehang tsa GC, kapa ho rarahana ho hoholo hoo hangata ho sa kopanngoeng hantle ho sebelisoa tatellano ea ho bala nako e khuts'oane. a le mong.
Tharollo ea rona ea ho emisa e le 'ngoe e fana ka lits'ebeletso tse kopaneng tsa tatellano le tlhahlobo ea bioinformatic e fanang ka genome ea boleng bo holimo e kopaneng ea de novo. Phuputso ea pele ea genome le Illumina e fana ka likhakanyo tsa boholo ba genome le ho rarahana, 'me boitsebiso bona bo sebelisetsoa ho tataisa mohato o latelang oa tatellano ea nako e telele le PacBio HiFi, e lateloa kede novokopano ea li-contigs. Tšebeliso e latelang ea kopano ea HiC e thusa ho tiisa li-contigs ho genome, ho fumana kopano ea boemo ba chromosome. Qetellong, genome e hlalosoa ka ho bolela esale pele ka liphatsa tsa lefutso le ka tatellano ea liphatsa tsa lefutso tse hlalositsoeng, ho sebelisa li-transcriptome tse nang le lipalo tse khutšoane le tse telele.
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Sequencing ea Exome ea Motho e Felletseng
Human Whole exome sequencing (hWES) e ananelwa hohle e le mokgwa wa tatelano o baballang tjhelete le o matla bakeng sa ho qolla diphetoho tse bakang mafu. Leha e ka ba 1.7% feela ea genome kaofela, li-exons li bapala karolo ea bohlokoa ka ho bonts'a ka kotloloho ts'ebetso ea kakaretso ea protheine. Haholo-holo, liphatseng tsa lefutso tsa motho, ho feta 85% ea liphetoho tse amanang le mafu li iponahatsa ka har'a libaka tsa protheine ea likhoutu. BMKGENE e fana ka ts'ebeletso e felletseng le e tenyetsehang ea tatellano ea batho ka kakaretso e nang le maano a mabeli a fapaneng a ho hapa a fumanehang ho fihlela lipheo tse fapaneng tsa lipatlisiso.
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Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
High-throughput genotyping, haholo-holo ho batho ba bangata, ke mohato oa bohlokoa lithutong tsa liphatsa tsa lefutso 'me o fana ka motheo oa liphatsa tsa lefutso bakeng sa ho sibolloa ha liphatsa tsa lefutso, tlhahlobo ea ho iphetola ha lintho, joalo-joalo.Representation Genome Sequencing (RRGS)hangata e sebelisoa lithutong tsena ho fokotsa litšenyehelo tsa tatellano ea sampuli ka nako e le 'ngoe ha ho ntse ho bolokoa ts'ebetso e nepahetseng ho sibolloeng ke matšoao a lefutso. RRGS e finyella sena ka ho sila DNA e nang le li-enzyme tse thibelang le ho tsepamisa maikutlo ho mefuta e itseng ea boholo ba sekhechana, ka hona e thathamisa karoloana feela ea genome. Har'a mekhoa e fapaneng ea RRGS, Specific-Locus Amplified Fragment Sequencing (SLAF) ke mokhoa o ka khonehang le oa boleng bo holimo. Mokhoa ona, o ntlafalitsoeng o ikemetseng ke BMKGene, o ntlafatsa enzyme ea thibelo e behiloeng bakeng sa morero o mong le o mong. Sena se netefatsa tlhahiso ea palo e kholo ea li-tag tsa SLAF (libaka tse 400-500 bps tsa genome tse hlophisoang) tse ajoang ka mokhoa o ts'oanang ho pholletsa le genome ha ka nepo ho qoba libaka tse iphetang, ka hona, ho netefatsa tšibollo e ntle ka ho fetisisa ea liphatsa tsa lefutso.
