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Kuongorora Kubatana kweGenome-wide
Chinangwa cheGenome-Wide Association Studies (GWAS) ndechekuona kusiyana kwemajini (genotypes) kwakabatana nehunhu hwakati (phenotypes). Nekuongorora zviratidzo zvemajini mugenome yese muvanhu vakawanda, GWAS inoburitsa hukama hwemajini-phenotype kuburikidza nekuongorora nhamba dzevanhu. Nzira iyi inoshandisa mashandisirwo akawanda mukutsvagisa zvirwere zvevanhu uye kuongorora majini anoshanda ane chekuita nehunhu hwakaoma mumhuka kana zvirimwa.
KuBMKGENE, tinopa nzira mbiri dzekuita GWAS pahuwandu hwevanhu vakawanda: kushandisa Whole-Genome Sequencing (WGS) kana kusarudza nzira yekuderedza kuratidzwa kwegenome sequencing, iyo yakagadzirwa mukati meimba inonzi Specific-Locus Amplified Fragment (SLAF). Kunyange zvazvo WGS inokodzera ma genome madiki, SLAF inobuda senzira inodhura zvishoma yekudzidza huwandu hwevanhu vakawanda vane ma genome marefu, zvichideredza mitengo ye sequencing, ukuwo ichivimbisa kushanda zvakanaka kwe genetic marker discovery.
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Kutevedzana kweGenome Yese yezvirimwa/mhuka
Kutevedzana kweGenome Yese (WGS) inzira inoshandiswa kuona kutevedzana kweDNA yegenome yechisikwa panguva imwe chete.
Kazhinji, basa iri rinokamurwa kuita mapoka maviri akasiyana zvichienderana nekuvapo kwe genome reference:
- De novokutevedzana kwese kwemajini.Mumamiriro ezvinhu aya, genome icharongwa haina genome reference iripo, uye nekuda kweizvozvo, chinangwa chekutevera uku ndechekuigadzira (kana kuvandudza iripo). Iyi nzira inofanirwa kushandisa zvese, data reIllumina uye kutevedzana kwenguva refu kuti ivandudze kuungana kwegenome nekugadzira kuwirirana pakati pekuverenga.
- Kurongazve zvinhu.Inoreva kutevedzana kwese kwemajini emarudzi akasiyana ane majini anozivikanwa. Pachikonzero ichi, misiyano yemajini evanhu kana mapoka inogona kuonekwa zvakanyanya.
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Kushanduka-shanduka kwemajini
Evolutionary Genetics ibasa rakakwana rekuongorora mafambiro ezvisikwa rakagadzirirwa kupa dudziro ine ruzivo rwekushanduka-shanduka kwezvisikwa mukati meboka guru revanhu, zvichibva pakusiyana kwemajini, kusanganisira SNPs, InDels, SVs, uye CNVs. Basa iri rinosanganisira ongororo dzese dzakakosha dzinodiwa kujekesa shanduko dzekushanduka-shanduka uye hunhu hwemajini ehuwandu hwevanhu, kusanganisira kuongororwa kwechimiro chehuwandu hwevanhu, kusiyana kwemajini, uye hukama hwephylogenetic. Uyezve, rinoongorora zvidzidzo pamusoro pekuyerera kwemajini, zvichigonesa kufungidzira kwehukuru hwevanhu hunoshanda uye nguva yekusiyana. Zvidzidzo zvemajini ekushanduka-shanduka zvinopa ruzivo rwakakosha nezvekwakabva uye kugadziriswa kwemarudzi.
PaBMKGENE, tinopa nzira mbiri dzekuita zvidzidzo zvemajini ekushanduka-shanduka pahuwandu hwevanhu vakawanda: kushandisa whole-genome sequencing (WGS) kana kusarudza nzira yekuderedza kuratidzwa kwegenome sequencing, iyo yakagadzirwa mukati meimba inonzi Specific-Locus Amplified Fragment (SLAF). Kunyange zvazvo WGS ichikodzera ma genome madiki, SLAF inobuda senzira inodhura zvishoma yekudzidza huwandu hwevanhu vakawanda vane ma genome marefu, zvichideredza mari yekutevera.
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Kuenzanisa Genomics
Kuenzanisa majini kunosanganisira kuongorora nekuenzanisa marongerwo emajini ese nemaumbirwo pakati pemarudzi akasiyana. Basa iri rinotsvaga kuburitsa pachena kushanduka kwemarudzi, kutsanangura mashandiro emajini, uye kujekesa nzira dzekutonga majini nekuona maumbirwo emarongerwo akachengetwa kana akasiyana uye zvinhu zvakasiyana-siyana muzvisikwa zvakasiyana-siyana. Chidzidzo chakakwana chekuenzanisa majini chinosanganisira ongororo dzakadai semhuri dzemajini, kukura kwekushanduka-shanduka, zviitiko zvekudzokororwa kwemajini ese, uye kukanganisa kwekumanikidzwa kwekusarudza.
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Kuungana kweGenome Yakavakirwa paHi-C
Hi-C inzira yakagadzirirwa kubata chimiro chechromosome nekubatanidza kuongorora kusangana kwakavakirwa padyo uye kutevedzana kwepamusoro-soro. Kusimba kwekubatana uku kunofungidzirwa kuti kwakabatana zvisina kunaka nekureba kwemachromosome. Nokudaro, data reHi-C rinoshandiswa kutungamira kuunganidzwa, kurongeka, uye kurongeka kwezvikamu zvakaunganidzwa mugenome rekugadzira uye kuzviisa panhamba yakati yemachromosome. Iyi tekinoroji inogonesa kuungana kwegenome remazinga echromosome pasina mepu yemageneti inoenderana nevanhu. Genome rega rega rinoda Hi-C.
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Chirimwa/Mhuka De Novo Genome Sequencing
De NovoKutevedzana kunoreva kuvaka genome rese remhando uchishandisa matekinoroji ekutevera kana pasina genome reference. Kutanga uye kushandiswa kwakapararira kwekutevera kwechizvarwa chechitatu, kune kuverenga kwenguva refu, kwakavandudza zvakanyanya kuungana kwegenome nekuwedzera kupindirana pakati pekuverenga. Kuvandudzwa uku kwakakosha zvikuru pakubata nema genome akaoma, akadai seaya anoratidza heterozygosity yakakwira, chiyero chepamusoro chenzvimbo dzinodzokororwa, polyploids, uye nzvimbo dzine zvinhu zvinodzokororwa, zviri mukati meGC zvisina kujairika, kana kuomarara kwakanyanya kunowanzo unganidzwa zvisina kunaka uchishandisa kutevedzana kwekuverenga kupfupi chete.
Mhinduro yedu ye "one-stop solution" inopa masevhisi ekubatanidza ma "sequencing" pamwe ne "bioinformatic analysis" iyo inopa genome yemhando yepamusoro yakagadzirwa ne "de novo assembly". Ongororo yekutanga ye genome neIllumina inopa fungidziro yehukuru hwe genome uye kuoma kwayo, uye ruzivo urwu runoshandiswa kutungamira nhanho inotevera ye "long-readed" sequencing nePacBio HiFi, ichiteverwa nede novokuunganidzwa kwemajini. Kushandiswa kweHiC assembly kunogonesa kunamatira kwemajini aya kugenome, zvichiita kuti pave nekuungana kwemakromosomu. Pakupedzisira, genome inotsanangurirwa nekufanotaura kwemajini uye nekutevedzana kwemajini akaratidzwa, vachishandisa transcriptomes dzine kuverenga kupfupi nekureba.
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Kutevedzana Kwemunhu Wese weExome
Kutevedzana kwemasero emuviri emunhu wese (hWES) kunozivikanwa zvakanyanya senzira inoshanda uye ine simba yekutevera masero emuviri pakutsvaga shanduko dzinokonzera chirwere. Kunyangwe ichingova 1.7% chete yegenome rese, maexon anoita basa rakakosha nekuratidza zvakananga chimiro chemabasa ese eprotein. Zvakakosha kuti, mugenome remunhu, anopfuura 85% ekuchinja kwakabatana nezvirwere zvinoonekwa munzvimbo dzinoratidza mapuroteni. BMKGENE inopa sevhisi yakazara uye inochinjika yekutevera masero emuviri emunhu wese ine nzira mbiri dzakasiyana dzekubata maexon dziripo kuti dzizadzise zvinangwa zvakasiyana-siyana zvekutsvagisa.
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Kutevedzana kweZvikamu Zvakatsanangurwa zveLocus (SLAF-Seq)
Nzira iyi yakagadzirwa yega neBMKGene, inogona kuiswa muzvikamu zve genome sequencing yakaderedzwa. Inogadzirisa restriction enzyme set yeprojekti yega yega. Izvi zvinovimbisa kugadzirwa kwehuwandu hwakawanda hweSLAF tags (400-500 bps nzvimbo dze genome dziri kurongwa) dzinogoverwa zvakaenzana mu genome uku dzichidzivirira nzvimbo dzinodzokororwa, nokudaro zvichivimbisa kuwanikwa kwe genetic marker yakanakisisa.
Inopa genotyping inokurumidza uye inoisa hwaro hwekuwana majini anoshanda kana ongororo yekushanduka-shanduka ichideredza mutengo wemuenzaniso wega wega uku ichichengetedza kushanda zvakanaka mukuwana majini. RRGS inoita izvi nekugaya DNA nema enzymes ekudzivirira uye kutarisa pane huwandu hwakati hwezvidimbu, nokudaro ichitevedza chikamu chidiki chete chejini. Pakati penzira dzakasiyana-siyana dzeRRGS, Specific-Locus Amplified Fragment Sequencing (SLAF) inzira inogadziriswa uye yepamusoro-soro.
