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I-Genome-wide Association Analysis
Ucwaningo lwe-Genome-wide association (GWAS) luhlose ukuhlonza okuhlukile kofuzo (i-genotype) ehlotshaniswa nezici ezithile (i-phenotype).Ucwaningo lwe-GWAS luphenya izimpawu zofuzo eziwela lonke i-genome yenani elikhulu labantu futhi libikezela izinhlangano ze-genotype-phenotype ngokuhlaziywa kwezibalo ezingeni labantu.Isetshenziswe kabanzi ocwaningweni lwezifo zabantu kanye nokumbiwa kwezakhi zofuzo ezicini eziyinkimbinkimbi zezilwane noma izitshalo.
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Ukulandelana Kohlobo Lonke Lwezitshalo/Izilwane
Ukulandelana kabusha kwe-genome okuphelele, okubuye kwaziwe nge-WGS, kuvumela ukudalulwa kwakho kokubili ukuguqulwa okuvamile nokungavamile kuyo yonke i-genome okuhlanganisa i-Single Nucleotide Polymorphism (SNP), Ukususwa Kokufaka (InDel), Ukuhluka Kwesakhiwo (SV), kanye Nokuhlukahluka Kwenombolo Kopisha (CNV ).Ama-SV enza ingxenye enkulu yesisekelo sokuhlukahluka kune-SNP futhi anomthelela omkhulu ku-genome, enomthelela obalulekile ezintweni eziphilayo.Ukuphinda kufundwe isikhathi eside kuvumela ukuhlonza okunembe kakhudlwana kwezingcezu ezinkulu nokuhluka okuyinkimbinkimbi ngoba ukufunda isikhathi eside kwenza kube lula kakhulu ukweqa i-chromosomal ezindaweni eziyinkimbinkimbi njengokuphindaphinda kwe-tandem, izifunda ezicebile ze-GC/AT, nezifunda eziguquguquka kakhulu.
Ipulatifomu: Illumina, PacBio, Nanopore
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I-Evolutionary Genetics
I-Evolutionary genetics iyisevisi egcwele yokulandelana eyenzelwe ukuhlinzeka ngencazelo ebanzi yolwazi lokuziphendukela kwemvelo lwezinto ezinikeziwe ngokusekelwe ezinhlobonhlobo zofuzo, okuhlanganisa ama-SNP, ama-InDels, ama-SV nama-CNV.Ihlinzeka ngakho konke ukuhlaziya okuyisisekelo okudingekayo ekuchazeni izinguquko zokuziphendukela kwemvelo kanye nezici zofuzo zabantu, njengesakhiwo sabantu, ukuhlukahluka kofuzo, ubudlelwano be-phylogeny, njll. Futhi iqukethe izifundo ngokugeleza kwezakhi zofuzo, okunika amandla ukulinganiswa kobukhulu besibalo esisebenzayo, isikhathi sokuhlukana.
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I-Genomics yokuqhathanisa
I-genomics yokuqhathanisa ngokwezwi nezwi isho ukuqhathanisa ukulandelana okuphelele kwe-genome nezakhiwo zezinhlobo ezahlukene.Lesi sinqumo sihlose ukuveza ukuvela kwezinhlobo zezilwane, ukusebenza kwezakhi zofuzo, indlela yokulawula izakhi zofuzo ezingeni le-genome ngokuhlonza izakhiwo zokulandelana nezici ezilondolozwe noma ezehlukanisa kuzo zonke izinhlobo zezinhlobo ezahlukene.Ucwaningo olujwayelekile lokuqhathanisa lwe-genomics luhlanganisa ukuhlaziya emndenini wezakhi, ukukhula kokuziphendukela kwemvelo, ukuphindaphinda kofuzo lonke, ingcindezi ekhethiwe, 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 ingaqondisa ukuhlanganisa, ukuhleleka nokuqondiswa kokulandelana okuqoqiwe ku-genome esalungiswa futhi kunamathisele lokho enanini elithile lama-chromosome.Lobu buchwepheshe bunika amandla ukuhlangana kweleveli ye-chromosome yofuzo ngaphandle kwemephu yofuzo esekelwe kubantu.Yonke i-genome eyodwa idinga i-Hi-C.
Ipulatifomu: I-Illumina NovaSeq Platform / DNBSEQ
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Ukulandelanisa Kwezitshalo/Isilwane Se-De Novo Genome
De Novoukulandelana kubhekisela ekwakhiweni kofuzo lohlobo lonke kusetshenziswa ubuchwepheshe bokulandelana, isb i-PacBio, i-Nanopore, i-NGS, njll., ingekho i-genome eyireferensi.Ukuthuthukiswa okuphawulekayo kobude bokufunda kobuchwepheshe bokulandelana kwesizukulwane sesithathu kulethe amathuba amasha ekuhlanganiseni ama-genome ayinkimbinkimbi, njengalawo ane-heterozygosity ephezulu, isilinganiso esiphezulu sezifunda eziphindaphindayo, ama-polyploid, njll. Ngobude bokufunda ezingeni lama-kilobase amashumi, lokhu kufundwa kokulandelana kwenza kube lula. ukuxazulula izici eziphindaphindayo, izifunda ezinokuqukethwe kwe-GC okungajwayelekile nezinye izifunda eziyinkimbinkimbi kakhulu.
I-Platform: I-PacBio Sequel II / Nanopore PromethION P48/ Illumina NovaSeq Platform
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Ukulandelana kwe-Human Whole Exome
I-Whole exome sequencing (WES) ithathwa njengesu lokulandelana elingabizi kakhulu lokuhlonza ukuguqulwa okubangela izifo.Nakuba ama-exons athatha kuphela cishe u-1.7% wayo yonke i-genome, imele iphrofayili yengqikithi yemisebenzi yamaprotheni ngokuqondile.Ku-genome yomuntu, kubikwe ukuthi ngaphezu kwama-85% wezinguquko ezihlobene nesifo zenzeka endaweni yokufaka ikhodi yamaprotheni.
I-BMKGENE inikeza izinsiza eziphelele neziguquguqukayo zokulandelanisa i-exome yomuntu ngamasu ahlukene okuthwebula ama-exon atholakalayo ukuze kuhlangatshezwane nezinjongo zocwaningo ezihlukahlukene.
Ipulatifomu: I-Illumina NovaSeq Platform
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I-Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
I-genotyping ephezulu kakhulu, ikakhulukazi kubantu abaningi, iyisinyathelo esibalulekile ezifundweni zenhlangano yofuzo, ehlinzeka ngesisekelo sofuzo sokutholwa kwezakhi zofuzo ezisebenzayo, ukuhlaziya kokuziphendukela kwemvelo, njll. Esikhundleni sokulandelanisa kabusha kwegenome ejulile, kuncishiswe ukulandelana kofuzo lokumelela (RRGS). ) yethulwa ukuze kuncishiswe izindleko zokulandelanisa isampula ngayinye, kuyilapho kugcinwe ukusebenza kahle okunengqondo ekutholweni komaka wofuzo.Lokhu ngokuvamile kufinyelelwa ngokukhipha isinqamu esikhawulelwe ngaphakathi kobubanzi obunikeziwe bosayizi, obuqanjwe ngokuthi umtapo wolwazi oncishisiwe (RRL).I-Specific-locus amplified fragment sequencing (SLAF-Seq) isu lokuzithuthukisa le-SNP genotyping ene-reference genome noma ngaphandle kwayo.
Ipulatifomu: I-Illumina NovaSeq Platform
