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Uhlalutyo lwe-Genome-wide Association
Injongo ye-Genome-Wide Association Studies (GWAS) kukuchonga ukuhlukahluka kofuzo (i-genotypes) edibene neempawu ezithile (i-phenotypes). Ngokuphonononga iimpawu zofuzo kuyo yonke i-genome kwinani elikhulu labantu, i-GWAS ikhupha imibutho ye-genotype-phenotype ngokusebenzisa uhlalutyo lwamanani abantu. Le ndlela yokusebenza ifumana izicelo ezibanzi ekuphandeni izifo zabantu kunye nokuphonononga imizila yemfuza esebenzayo enxulumene neempawu ezinzima kwizilwanyana okanye kwizityalo.
Kwi-BMKGENE, sinikezela ngeendlela ezimbini zokuqhuba i-GWAS kubantu abaninzi: ukusebenzisa i-Whole-Genome Sequencing (WGS) okanye ukukhetha ukumelwa okucuthiweyo kwendlela yokulandelelanisa i-genome, i-In-house-developed Specific-Locus Amplified Fragment (SLAF). Ngelixa i-WGS ifanele iigenomes ezincinci, i-SLAF ivela njengenye indlela engabizi kakhulu yokufunda abantu abaninzi abaneejenomes ezinde, ngokusebenzayo icutha iindleko zolandelelwano, ngelixa iqinisekisa ukusebenza kakuhle kophawu lwemfuzo.
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Ulandelelwano lweGenome yeSityalo/yeSilwanyana
I-Whole Genome Sequencing (WGS), ekwabizwa ngokuba kulandelelwaniso kwakhona, ibhekisa kulo lonke ulandelelwano lwegenome lwabantu abohlukeneyo beentlobo ezahlukeneyo zejenomes ezaziwayo. Ngesi siseko, iyantlukwano ye-genomic yabantu okanye abemi inokuchongwa ngakumbi. I-WGS yenza ukuba kuchongwe i-Single Nucleotide Polymorphism (SNP), i-Insertion Deletion (InDel), i-Structure variation (SV), kunye neCopy Number Variation (CNV). I-SVs iquka inxalenye enkulu yesiseko sokwahluka kune-SNP kwaye ibe nempembelelo enkulu kwi-genome, echaphazela kakhulu izinto eziphilayo. Ngelixa ulandelelwano lokufunda okufutshane lusebenza ekuchongeni ii-SNP kunye ne-InDels, ukuphinda kufundwe ixesha elide kuvumela ukuchongwa okuchanekileyo kwamaqhekeza amakhulu kunye neenguqu ezinzima.
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I-Evolutionary Genetics
I-Evolutionary Genetics yinkonzo yolandelelwano olubanzi eyenzelwe ukunika inkcazo ecacileyo yendaleko phakathi kweqela elikhulu labantu, ngokusekelwe kwiinguqu zofuzo, kuquka i-SNP, i-InDels, i-SVs, kunye ne-CNVs. Le nkonzo iquka lonke ucazululo oluyimfuneko olufunekayo ukucacisa utshintsho lwendalo kunye neempawu zemfuzo zabemi, kubandakanywa novavanyo lwesakhiwo sabemi, iyantlukwano yemfuza, kunye nobudlelwane be-phylogenetic. Ngaphaya koko, iphonononga kwizifundo malunga nokuhamba kofuzo, okwenza ukuba uqikelelo lobungakanani babemi obusebenzayo kunye nexesha lokwahlukana. Izifundo zemfuzo zendaleko zinika ulwazi oluxabisekileyo kwimvelaphi kunye nohlengahlengiso lweentlobo.
Kwi-BMKGENE, sibonelela ngeendlela ezimbini zokuqhuba izifundo zemfuzo kubantu abaninzi: ukusebenzisa i-whole-genome sequencing (WGS) okanye ukukhetha ukumelwa okucuthiweyo kwendlela yolandelelwano lwe-genome, i-In-house-developed Specific-Locus Amplified Fragment (SLAF). Ngelixa i-WGS ifanele iigenomes ezincinci, i-SLAF ivela njengenye indlela engabizi kakhulu yokufunda abantu abaninzi abaneejenomes ezinde, ngokusebenzayo ukunciphisa iindleko zokulandelelana.
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Ukuthelekisa iGenomics
I-genomics yokuthelekisa ibandakanya ukuhlolwa kunye nokuthelekisa yonke i-genome ulandelelwano kunye nezakhiwo phakathi kweentlobo ezahlukeneyo. Lo mmandla ufuna ukutyhila ukuvela kweentlobo, ukucacisa imisebenzi yemfuza, kunye nokucacisa iindlela zolawulo lwemfuzo ngokuchonga izakhiwo zolandelelwano olugciniweyo okanye olwahlukileyo kunye nezakhi kwizinto ezahlukeneyo eziphilayo. Uphononongo olubanzi lothelekiso lwe-genomics lubandakanya uhlalutyo olufana neentsapho zemfuza, uphuhliso lwendaleko, iziganeko zokuphindaphinda igenome epheleleyo, kunye nefuthe loxinzelelo olukhethiweyo.
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INdibano yeGenome esekelwe kwi-Hi-C
I-Hi-C yindlela eyilelwe ukubamba ulungelelwaniso lwechromosome ngokudibanisa ukudibana okusekwe kufutshane kunye nolandelelwano oluphezulu. Ukuqina kolu nxibelelwano kukholelwa ukuba lunxulunyaniswa kakubi nomgama womzimba kwiichromosomes. Ke ngoko, idatha ye-Hi-C isetyenziselwa ukukhokela ukudityaniswa, ukulandelelana, kunye nokulungelelaniswa kolandelelwano oludityanisiweyo kwi-genome eyidrafti kunye nokuqinisa ezo kwinani elithile lekhromozomi. Obu buchwepheshe buxhobisa indibano yegenome yenqanaba lechromosome ngokungabikho kwemephu yofuzo esekwe ngabantu. Yonke i-genome enye idinga i-Hi-C.
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Isityalo/Isilwanyana saseDe Novo Genome Sequencing
De Novoulandelelwano lubhekisa kulwakhiwo lwegenome yohlobo lonke kusetyenziswa ubugcisa bolandelelwano ngokungabikho kwegenome yesalathiso. Intshayelelo kunye nokwamkelwa okubanzi kolandelelwano lwesizukulwana sesithathu, olunofundo olude, luphucule kakhulu ukuhlanganiswa kwegenome ngokwandisa ukuhlangana phakathi kokufunda. Olu lwandiso lufanelekile ngakumbi xa ujongene ne-genomes ecela umngeni, efana nezo zibonakalisa i-heterozygosity ephezulu, umlinganiselo ophezulu wemimandla ephindaphindayo, iipolyploids, kunye nemimandla enezinto eziphindaphindayo, imixholo ye-GC engaqhelekanga, okanye ubunzima obuphezulu obuhlala bungadityaniswanga kakuhle kusetyenziswa ulandelelwano lokufunda okufutshane. yedwa.
Isisombululo sethu sokumisa esinye sibonelela ngeenkonzo ezidibeneyo zolandelelwano kunye nohlalutyo lwe-bioinformatic oluhambisa igenome edityanisiweyo ye-de novo ephezulu. Uphando lokuqala lwe-genome kunye ne-Illumina lubonelela ngoqikelelo lobungakanani be-genome kunye nobunzima, kwaye olu lwazi lusetyenziselwa ukukhokela inyathelo elilandelayo lokulandelelana kwexesha elide kunye nePacBio HiFi, elandelwade novoukuhlanganiswa kwee-contigs. Ukusetyenziswa okulandelayo kwendibano ye-HiC kwenza ukuba i-anchoring ye-contigs kwi-genome, ifumane indibano yezinga le-chromosome. Okokugqibela, i-genome ichazwa ngokuqikelelwa kofuzo kunye nolandelelwano lwemfuza echaziweyo, ibhenela kwii-transcriptomes ezinokufundwa okufutshane kunye nokude.
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Ulandelelwano lwe-Exome yoMntu
I-Human Whole exome sequencing (hWES) yamkelwa ngokubanzi njengeyona ndlela ingabiziyo kwaye inamandla yolandelelwano yokuchonga iinguqulelo ezibangela isifo. Ngaphandle kokubandakanya kuphela i-1.7% ye-genome yonke, ii-exons zidlala indima ebalulekileyo ngokubonisa ngokuthe ngqo iprofayili yemisebenzi yeprotheyini epheleleyo. Ngokucacileyo, kwi-genome yomntu, ngaphezulu kwe-85% yeenguqu ezinxulumene nezifo ezibonakaliswa kwimimandla yeekhowudi zeprotheni. I-BMKGENE inikezela ngenkonzo ebanzi kwaye eguquguqukayo yabantu exome yolandelelwano kunye neendlela ezimbini ezahlukeneyo zokubanjwa kwe-exon ezikhoyo ukuhlangabezana neenjongo ezahlukeneyo zophando.
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I-Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
I-genotyping ephezulu, ngakumbi kumanani amakhulu, linyathelo elibalulekileyo kwizifundo zobudlelwane bemfuza kwaye ibonelela ngesiseko sofuzo sofuzo olusebenzayo, uhlalutyo lwe-evolution, njl.Umelelo oluncitshisiweyo lweGenome Sequencing (RRGS)ihlala isetyenziswa kolu phando ukunciphisa iindleko zolandelelwano ngesampulu nganye ngelixa igcina imfezeko efanelekileyo ekubhaqweni kophawu lwemfuzo. I-RRGS ifezekisa oku ngokugaya i-DNA kunye ne-enzymes yokuthintela kwaye igxininise kuluhlu oluthile lwesayizi yeqhekeza, ngaloo ndlela ilandelelanisa kuphela iqhezu le-genome. Phakathi kweendlela ezahlukeneyo ze-RRGS, i-Specific-Locus Amplified Fragment Sequencing (SLAF) yindlela enokwenziwa ngokwezifiso nekumgangatho ophezulu. Le ndlela, iphuhliswe ngokuzimeleyo yi-BMKGene, yenza ukuba i-enzayim yothintelo iseti yeprojekthi nganye. Oku kuqinisekisa ukuveliswa kwenani elikhulu leethegi ze-SLAF (iingingqi ezingama-400-500 ze-bps ze-genome zilandelelwaniswa) ezisasazwa ngokufanayo kwi-genome yonke ngeli lixa ngokufanelekileyo kuthintelwa ukuphinda-phinda imimandla, ngaloo ndlela kuqinisekisa okona kubhaqwa kophawu lwemfuza.
