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I-Genomics yokuqhathanisa
I-genomics yokuqhathanisa ihilela ukuhlolwa nokuqhathaniswa kwakho konke ukulandelana kwe-genome nezakhiwo phakathi kwezinhlobo ezahlukene. Lo mkhakha uhlose ukwembula ukuvela kwezinhlobo zezinto eziphilayo, ukunquma imisebenzi yofuzo, kanye nokucacisa izindlela zokulawula izakhi zofuzo ngokuhlonza izakhiwo zokulandelana ezilondoloziwe noma ezihlukene kanye nezakhi kuzo zonke izinto eziphilayo. Ucwaningo olunzulu lwe-genomics oluqhathanisayo luhlanganisa ukuhlaziya okufana nemindeni yezakhi zofuzo, ukukhula kokuziphendukela kwemvelo, izehlakalo zokuphindaphinda igenomu yonke, kanye nomthelela wezingcindezi ezikhethiwe.
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I-Evolutionary Genetics
Inkundla yokuhlaziya izakhi zofuzo yabantu kanye nokuziphendukela kwemvelo isungulwa ngokusekelwe kokuhlangenwe nakho okukhulu okuqoqwe eqenjini le-BMK R&D iminyaka. Kuyithuluzi elisebenziseka kalula ikakhulukazi kubacwaningi abangafundi kakhulu ku-bioinformatics. Le nkundla yenza kube lula ukuhlaziya okuyisisekelo okuhlobene nezakhi zofuzo okuhlanganisa ukwakhiwa kwesihlahla se-phylogenetic, ukuhlaziywa kokungalingani, ukuhlola ukuhlukahluka kwezakhi zofuzo, ukuhlaziya okukhethiwe, ukuhlaziywa kokuzalana, i-PCA, ukuhlaziywa kwesakhiwo sabantu, njll.
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I-Hi-C Based Genome Assembly
I-Hi-C iyindlela edizayinelwe ukuthwebula ukucushwa kwe-chromosome ngokuhlanganisa ukusebenzelana okusekelwe ekuhloleni kanye nokulandelana komphumela ophezulu. Ukuqina kwalokhu kusebenzisana kukholakala ukuthi kuhlotshaniswa kabi nebanga elingokomzimba kuma-chromosome. Ngakho-ke, idatha ye-Hi-C isetshenziselwa ukuqondisa ukuhlanganisa, ukuhleleka, nokuqondiswa kokulandelana okuhlanganisiwe ku-genome esalungiswa kanye nokunamathisela lezo ezinombolweni ezithile zama-chromosome. Lobu buchwepheshe bunika amandla ukuhlanganiswa kwegenome yezinga le-chromosome ngaphandle kwemephu yofuzo esekelwe kubantu. Yonke i-genome eyodwa idinga i-Hi-C.
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Ukulandelanisa Kwezitshalo/Isilwane Se-De Novo Genome
De Novoukulandelana kubhekisela ekwakhiweni kwegenome yohlobo lonke kusetshenziswa ubuchwepheshe bokulandelana lapho ingekho i-genome eyireferensi. Ukwethulwa nokwamukelwa okusabalele kokulandelana kwesizukulwane sesithathu, okufaka ukufundwa okude, kuthuthukise kakhulu ukuhlangana kofuzo ngokwandisa ukugqagqana phakathi kokufundwayo. Lesi sithuthukisi sifanelekile ikakhulukazi lapho usebenza nama-genomes ayinselele, njengalawo abonisa i-heterozygosity ephezulu, isilinganiso esiphezulu sezifunda eziphindaphindayo, ama-polyploid, nezifunda ezinezici eziphindaphindayo, okuqukethwe kwe-GC okungavamile, noma ukuba yinkimbinkimbi okuphezulu ngokuvamile okungahlanganiswanga kahle kusetshenziswa ukulandelana kokufundwa okufushane. yedwa.
Isixazululo sethu sokuma okukodwa sihlinzeka ngezinsizakalo zokulandelana ezididiyelwe kanye nokuhlaziywa kwe-bioinformatic okuletha i-genome ehlanganisiwe yekhwalithi ephezulu ye-de novo. Inhlolovo yokuqala ye-genome ne-Illumina inikeza izilinganiso zobukhulu bofuzo nobunkimbinkimbi, futhi lolu lwazi lusetshenziselwa ukuqondisa isinyathelo esilandelayo sokulandelana okufundwe isikhathi eside nge-PacBio HiFi, kulandelwade novoukuhlanganiswa kwama-contigs. Ukusetshenziswa okulandelayo kokuhlanganiswa kwe-HiC kunika amandla ukunamathela kwama-contig ku-genome, kutholwe ukuhlangana kweleveli ye-chromosome. Okokugcina, i-genome ichazwa ngokubikezela kwezakhi zofuzo nangokulandelanisa izakhi zofuzo eziveziwe, iphendukela kuma-transcriptomes anokufundwa okufushane nokude.
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Ukulandelana kwe-Human Whole Exome
I-Human Whole exome sequencing (hWES) yaziwa kabanzi njengendlela engabizi kakhulu futhi enamandla yokulandelanisa ukukhomba uguquko olubanga izifo. Naphezu kokwakha cishe u-1.7% walo lonke uhlobo lofuzo, ama-exons adlala indima ebalulekile ngokubonisa ngokuqondile iphrofayili yengqikithi yokusebenza kwamaprotheni. Ngokuphawulekayo, ku-genome yomuntu, ngaphezu kwe-85% yokuguqulwa kwezifo ezihlobene nezifo kubonakala ngaphakathi kwezifunda zekhodi yamaprotheni. I-BMKGENE inikeza insizakalo yokulandelanisa ye-exome ephelele futhi eguquguqukayo enamasu amabili ahlukene okuthwebula ama-exon atholakalayo ukuze kuhlangatshezwane nezinjongo zocwaningo ezihlukahlukene.
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I-Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
I-genotyping ephezulu kakhulu, ikakhulukazi kubantu abaningi, iyisinyathelo esibalulekile ocwaningweni lwenhlangano yofuzo futhi ihlinzeka ngesisekelo sofuzo sokutholwa kwezakhi zofuzo ezisebenzayo, ukuhlaziya kokuziphendukela kwemvelo, njll. Esikhundleni sokulandelana kabusha kwegenomu ejulile,Ukumelela Okuncishisiwe Ukulandelana Kwe-genome (RRGS)kuvame ukusetshenziswa kulezi zifundo ukuze kuncishiswe izindleko zokulandelanisa isampula ngayinye kuyilapho kugcinwa ukusebenza kahle okunengqondo ekutholweni komaka wofuzo. I-RRGS ifinyelela lokhu ngokugaya i-DNA enama-enzyme anomkhawulo futhi igxile kububanzi obuthile bosayizi wesiqephu, ngaleyo ndlela ilandelana kuphela ingxenye encane ye-genome. Phakathi kwezindlela ezihlukahlukene ze-RRGS, i-Specific-Locus Amplified Fragment Sequencing (SLAF) iyindlela yokwenza ngokwezifiso nekhwalithi ephezulu. Le ndlela, ethuthukiswe ngokuzimela yi-BMKGene, ithuthukisa i-enzyme yokuvinjelwa esethelwe yonke iphrojekthi. Lokhu kuqinisekisa ukukhiqizwa kwenani elikhulu lamathegi e-SLAF (izifunda ezingama-400-500 bps ze-genome ezilandelanayo) asatshalaliswa ngokufanayo kulo lonke uhlobo lofuzo kuyilapho kugwema ngempumelelo izifunda eziphindaphindayo, ngaleyo ndlela kuqinisekisa ukutholakala komaka kofuzo okungcono kakhulu.
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Imitapo yolwazi eyenziwe nge-Illumina
Ubuchwepheshe bokulandelana kwe-Illumina, obusekelwe ku-Sequencing by Synthesis (SBS), iwukuqanjwa okusha kwe-NGS okwamukelwa emhlabeni wonke, okubophezelekile ukukhiqiza ngaphezu kuka-90% wedatha yokulandelana komhlaba. Umgomo we-SBS ubandakanya ukuthwebula izithombe ezishintshashintshayo ezilebulwe ngokushintshashintsha kwe-fluorescent njengoba i-dNTP ngayinye yengezwa, futhi kamuva igoqe ukuze kuvunyelwe ukufakwa kwesisekelo esilandelayo. Ngawo wonke ama-dNTP amane abophezelayo abophezelayo akhona kumjikelezo ngamunye wokulandelana, ukuncintisana kwemvelo kunciphisa ukuchema kokufakwa. Lobu buchwepheshe obuhlukahlukene busekela imitapo yolwazi efundwa kanye kanye naleyo ebhanqiwe, ihlinzekela uhla lwezinhlelo zokusebenza ze-genomic. Amakhono we-Illumina wokulandelanisa okuphuma phambili nokunemba akubeka njengesisekelo ocwaningweni lwe-genomics, kunikeza ososayensi amandla okuqaqa ubunkimbinkimbi bezakhi zofuzo ngemininingwane engenakuqhathaniswa nokusebenza kahle.
Isevisi yethu yokulandelanisa umtapo wolwazi eyenziwe ngaphambilini yenza amakhasimende akwazi ukulungisa amalabhulali alandelanayo avela emithonjeni eyahlukene (mRNA, i-genome yonke, i-amplicon, imitapo yolwazi engu-10x, phakathi kokunye). Ngokulandelayo, le mitapo yolwazi ingathunyelwa ezikhungweni zethu zokulandelanisa ukuze zilawule ikhwalithi nokulandelana ezisekelweni ze-Illumina.
