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Genome-wide Association Analysis
Chinangwa cheGenome-Wide Association Zvidzidzo (GWAS) ndechekutsvaga genetic variants (genotypes) yakabatana nehunhu chaihwo (phenotypes). Nekuongorora ma genetic markers mukati megenome yese munhamba huru yevanhu, GWAS inowedzera genotype-phenotype masangano kuburikidza nehuwandu hwehuwandu hwehuwandu hwehuwandu hwehuwandu hwevanhu. Iyi nzira inowana mashandisirwo akakura mukutsvagisa zvirwere zvevanhu uye kuongorora majini anoshanda ane chekuita nehunhu hwakaoma mumhuka kana zvirimwa.
PaBMKGENE, tinopa nzira mbiri dzekuitisa GWAS pahuwandu hwevanhu: kushandisa Whole-Genome Sequencing (WGS) kana kusarudza yakaderedzwa inomiririra genome sequencing nzira, mukati-yakagadziridzwa Specific-Locus Amplified Fragment (SLAF). Nepo WGS ichikodzera madiki genomes, SLAF inobuda seimwe nzira isingadhure yekudzidza vanhu vakakura vane jenomes refu, zvichidzikamisa mitengo yekutevedzana, uku ichivimbisa kuwanikwa kwemajini emhando yepamusoro.
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Chirimwa/Mhuka Yese Genome Sequencing
Whole Genome Sequencing (WGS), inozivikanwawo serequencing, inoreva kutevedzana kwegenome kwevanhu vakasiyana vemarudzi ane anozivikanwa mareferenzi genome. Pahwaro uhwu, misiyano yegenomic yevanhu kana huwandu hwevanhu inogona kutariswa zvakare. WGS inogonesa kuzivikanwa kweSingle Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure variation (SV), uye Copy Number Variation (CNV). MaSV anosanganisira chikamu chakakura chekusiyana-siyana pane SNPs uye ane simba guru pane genome, zvakanyanya kukanganisa zvipenyu. Nepo kupfupika-kuverenga kudzokorora kunoshanda mukuziva SNPs neInDels, kuverenga-kurebesa requencing kunobvumira kunyatsozivikanwa kwezvimedu zvakakura uye misiyano yakaoma.
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Evolutionary Genetics
Evolutionary Genetics ibasa rakazara rekutevedzana rakagadzirirwa kupa dudziro inonzwisisika yekushanduka-shanduka mukati meboka guru revanhu, zvichienderana nekusiyana kwemajini, kusanganisira SNPs, InDels, SVs, uye CNVs. Iri sevhisi rinobatanidza zvese zvakakosha ongororo inodiwa kujekesa shanduko yekushanduka-shanduka uye hunhu hwemagariro evanhu, kusanganisira kuongororwa kwehuwandu hwehuwandu hwevanhu, genetic kusiyana, uye phylogenetic hukama. Uyezve, inopinda muzvidzidzo zvekuyerera kwemajini, ichigonesa fungidziro yehukuru hwehuwandu hwevanhu uye nguva yekusiyana. Zvidzidzo zveEvolutionary genetics zvinopa ruzivo rwakakosha nezvekwakabva uye kuchinjika kwemarudzi.
PaBMKGENE, tinopa nzira mbiri dzekuitisa evolutionary genetics zvidzidzo pahuwandu hwevanhu: kushandisa whole-genome sequencing (WGS) kana kusarudza yakaderedzwa inomiririra genome sequencing nzira, mukati-yakagadzirwa Specific-Locus Amplified Fragment (SLAF). Nepo WGS ichienderana madiki genomes, SLAF inobuda seimwe inodhura-inoshanda imwe nzira yekudzidza vanhu vakakura vane jenomes refu, nekudzikisa mutengo wekutevedzana.
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Kuenzanisa Genomics
Kuenzanisa genomics kunosanganisira kuongororwa uye kuenzanisa kwese genome kutevedzana uye zvimiro pakati pemarudzi akasiyana. Iyi ndima inotsvaga kufumura kushanduka kwezvipenyu, decode mashandiro emajini, uye kujekesa maitiro ekutonga genetic nekuona zvakachengetwa kana kupatsanurwa kutevedzana zvimiro uye zvinhu muzvisikwa zvakasiyana siyana. Chidzidzo chakakwana chekuenzanisa genomics chinosanganisira ongororo dzakadai semhuri dzemajini, kusimukira kwemhindumupindu, zviitiko zvekudzokorora-zvese-genome, uye kukanganisa kwekumanikidza kwakasarudzika.
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Hi-C Yakavakirwa Genome Assembly
Hi-C inzira yakagadzirirwa kubata chromosome kumisikidzwa nekubatanidza kuongorora kudhuze-kwakavakirwa kupindirana uye yakakwirira-kuburikidza sequencing. Kusimba kwekudyidzana uku kunofungidzirwa kuve kwakabatana zvisina kunaka nekureba kwemuviri pamakromosomes. Naizvozvo, data reHi-C rinoshandiswa kutungamira kuunganidzwa, kurongeka, uye kutungamira kweakaunganidzwa akateedzana mugwaro rejenome uye kusimudzira iwo pane imwe nhamba yemakromosomes. Iyi tekinoroji inogonesa chromosome-level genome musangano mukushaikwa kwehuwandu-hwakavakirwa genetic mepu. Yese genome imwe inoda Hi-C.
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Chirimwa/Mhuka De Novo Genome Sequencing
De Novokutevedzana (sequencing) zvinoreva kuvakwa kwejenome rerudzi rwemhando yose pachishandiswa matekinoroji ekutevedzana pasina genome rereferenzi. Nhanganyaya uye kutekeshera kwakapararira kwechizvarwa chechitatu kutevedzana, kuine kuverenga kwenguva refu, kwakasimudzira zvakanyanya kusangana kwejenome nekuwedzera kupindirana pakati pekuverenga. Kuwedzeredzwa uku kunonyanya kukosha kana uchibata neanonetsa genomes, akadai seaya anoratidza yakakwira heterozygosity, chiyero chepamusoro chenzvimbo dzinodzokororwa, mapolyploid, uye matunhu ane zvinhu zvinodzokororwa, zvisingaite zveGC zvirimo, kana kuomarara kwakanyanya kunowanzo kuunganidzwa zvisina kunaka uchishandisa pfupi-kuverenga kutevedzana. ndega.
Yedu-yekumira mhinduro inopa yakasanganiswa kutevedzana masevhisi uye bioinformatic ongororo iyo inopa yemhando yepamusoro de novo yakaunganidzwa genome. Ongororo yekutanga genome neIllumina inopa fungidziro yehukuru hwegenome uye kuomarara, uye ruzivo urwu runoshandiswa kutungamira nhanho inotevera yekuverenga kwenguva refu kutevedzana nePacBio HiFi, inoteverwa nede novomusangano we contigs. Iko kunotevera kushandiswa kweiyo HiC gungano kunogonesa kusungirirwa kweiyo contigs kune genome, kuwana chromosome-level musangano. Chekupedzisira, iyo genome inotsanangurwa nekufanotaura kwemajini uye nekuteedzera majini akatsanangurwa, achitendeukira kune zvinyorwa zvine pfupi uye refu kuverenga.
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Kutevedzana Kwemunhu Yese Exome
Human Whole exome sequencing (hWES) inobvumwa zvakanyanya senzira inodhura uye ine simba yekutevedzanisa yekunongedza machinjiro anokonzera chirwere. Kunyangwe ichingoumba chete 1.7% yegenome yese, maexons anoita basa rakakosha nekuratidza zvakananga chimiro chehuwandu hwemapuroteni. Sezvineiwo, mugenome remunhu, pamusoro pe85% yekuchinja kune hukama nezvirwere kunoratidzwa mukati meprotein coding matunhu. BMKGENE inopa yakazara uye inochinjika yemunhu yese exome sequencing sevhisi ine maviri akasiyana eexon ekutora nzira dziripo dzekuzadzisa zvinangwa zvakasiyana zvekutsvaga.
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Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
High-throughput genotyping, kunyanya pahuwandu hwevanhu, inhanho inokosha muzvidzidzo zvemajini ekubatana uye inopa genetic hwaro hwekuwanikwa kwemajini anoshanda, ongororo yekushanduka-shanduka, zvichingodaro. Panzvimbo pekutevedzana kwakadzika kwegenome,Yakaderedzwa Representation Genome Sequencing (RRGS)inowanzo shandiswa muzvidzidzo izvi kuderedza kuteedzera mutengo pasampu yega uchichengetedza kugona kwakanaka mukuwanikwa kwema genetic marker. RRGS inowana izvi nekugaya DNA ine kudzora ma enzymes uye kutarisa pane chaiyo chidimbu saizi renji, nekudaro ichitevedza chikamu chidimbu chejenome. Pakati peakasiyana maRRGS maitiro, Yakananga-Locus Amplified Fragment Sequencing (SLAF) inzira inogoneka uye yemhando yepamusoro. Iyi nzira, yakagadziridzwa yakazvimiririra neBMKGene, inokwidziridza iyo inorambidza enzyme yakaiswa kune yega purojekiti. Izvi zvinogonesa kugadzirwa kwehuwandu hwakakura hwema tag eSLAF (400-500 bps matunhu ejenome ari kutevedzana) ayo akagovaniswa zvakafanana mukati megenome uku achinyatso kudzivirira kudzokorora matunhu, nekudaro achivimbisa yakanakisa genetic marker kuwanikwa.
