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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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I-Evolutionary Genetics
Inani labantu kunye neqonga lokuhlalutya imfuzo lisekwe kwisiseko samava amakhulu aqokelelwe kwiqela le-BMK R&D iminyaka. Sisixhobo esisebenziseka lula ngakumbi kubaphandi abangabalulekanga kwi-bioinformatics. Eli qonga livumela uhlalutyo olusisiseko olunxulumene nemfuzo esisiseko kubandakanya ukwakhiwa komthi we-phylogenetic, uhlalutyo lokungalungelelani konxibelelwano, uvavanyo lokwahluka kofuzo, uhlalutyo olukhethiweyo lokutshayela, uhlalutyo lokuzalana, i-PCA, uhlalutyo lwesakhiwo sabemi, njl.
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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.
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Illumina amathala eencwadi enziwe kwangaphambili
Itekhnoloji yolandelelwano ye-Illumina, esekwe kulandelelwano nge-Synthesis (SBS), yinto entsha ye-NGS eyamkelwe kwihlabathi jikelele, enoxanduva lokuvelisa ngaphezulu kwe-90% yedatha yolandelelwano lwehlabathi. Umthetho-siseko we-SBS ubandakanya umboniso we-fluorescent obhalwe izitermina ezibuyiselwa umva njengoko i-dNTP nganye yongezwa, kwaye emva koko yacandwa ukuvumela ukufakwa kwesiseko esilandelayo. Ngazo zone ii-dNTP ezine-terminator-bound bounded dNTP ezikhoyo kumjikelo ngamnye wolandelelwano, ukhuphiswano lwendalo lunciphisa ukubandakanywa kokubandakanya. Ubuchwephesha obuguquguqukayo buxhasa amathala eencwadi afundwe kunye kunye nesiphelo sesibini, silungiselela uluhlu lwezicelo ze-genomic. I-Illumina yokulandelanisa i-high-throughput i-high-throughput ibeka njengelitye lembombo kuphando lwe-genomics, ixhobisa izazinzulu ukuba ziveze ubucukubhede be-genomes ngeenkcukacha ezingenakulinganiswa kunye nokusebenza kakuhle.
Inkonzo yethu yolandelelwano yethala leencwadi eyenziwe kwangaphambili yenza ukuba abathengi bakwazi ukulungiselela amathala eencwadi alandelelanayo ukusuka kwimithombo eyahlukeneyo (i-mRNA, i-genome epheleleyo, i-amplicon, iilayibrari eziyi-10x, phakathi kwezinye). Emva koko, la mathala eencwadi anokuthunyelwa kumaziko ethu olandelelwano lolawulo lomgangatho kunye nokulandelelana kwiiplatifti ze-Illumina.
