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Uhlalutyo lwe-Genome-wide Association
I-Genome-wide association study (GWAS) ijolise ekuchongeni ukuhlukahluka kofuzo (i-genotype) ehambelana neempawu ezithile (phenotype).Uphononongo lwe-GWAS luphanda iimpawu zofuzo ezinqamlezileyo kwi-genome yenani elikhulu labantu kwaye liqikelela imibutho ye-genotype-phenotype ngohlalutyo lwamanani kwinqanaba labantu.Isetyenziswe ngokubanzi kuphando ngezifo zabantu kunye nokwembiwa kwemfuza okusebenzayo kwiimpawu ezinzima zezilwanyana okanye izityalo.
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Ulandelelwano lweGenome yeSityalo/yeSilwanyana
Ukulandelelana kwakhona kwe-genome yonke, eyaziwa ngokuba yi-WGS, yenza ukuba kutyhilwe zombini iinguqulelo eziqhelekileyo kunye nezinqabileyo kuyo yonke i-genome kuquka i-Single Nucleotide Polymorphism (SNP), ukucinywa kokuFaka (InDel), ukwahluka koLwakhiwo (SV), kunye neCopy Number Variation (CNV). ).I-SVs zenza inxalenye enkulu yesiseko sokwahluka kune-SNP kwaye ibe nempembelelo enkulu kwi-genome, enempembelelo ebalulekileyo kwizinto eziphilayo.Ukuphinda kufundwe ixesha elide kuvumela ukuchongwa okuchane ngakumbi kwamaqhekeza amakhulu kunye nokwahluka okuntsokothileyo kuba ukufunda ixesha elide kwenza kube lula ukuwela ichromosomal ngaphaya kwemimandla entsonkothileyo efana nokuphindaphinda kwe-tandem, imimandla etyebileyo yeGC/AT, kunye nemimandla eguquguqukayo.
Iqonga: Illumina, PacBio, Nanopore
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I-Evolutionary Genetics
I-Evolutionary genetics yinkonzo yolandelelwano epakishweyo eyenzelwe ukunika utoliko olubanzi kulwazi lwendaleko lwemathiriyeli enikeziweyo esekelwe kwiiyantlukwano zemfuza, kubandakanywa ii-SNP, i-InDels, i-SVs kunye ne-CNVs.Ibonelela ngalo lonke ucazululo olusisiseko olufunekayo ekuchazeni utshintsho lwendaleko kunye neempawu zemfuza zabantu, ezifana nokwakheka kwabantu, iyantlukwano yemfuza, ubudlelwane bephylogeny, njl.
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Ukuthelekisa iGenomics
Ukuthelekisa i-genomics ngokoqobo kuthetha ukuthelekisa ulandelelwano olupheleleyo lwe-genome kunye nezakhiwo zeentlobo ezahlukeneyo.Olu qeqesho lujolise ekubonakaliseni ukuvela kweentlobo, umsebenzi wemfuza, indlela yokulawula imfuza kwinqanaba le-genome ngokuchonga izakhiwo zolandelelwano kunye nezinto ezigciniweyo okanye ezahlulayo kwiintlobo ezahlukeneyo zeentlobo.Uphononongo oluqhelekileyo lothelekiso lwe-genomics lubandakanya ucazululo kusapho lwemfuza, uphuhliso lwendaleko, uphindaphindo lwegenome epheleleyo, uxinzelelo olukhethiweyo, njl.njl.
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INdibano yeGenome esekwe 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 inokukhokela ukudityaniswa, ukulandelelana kunye nokulungelelaniswa kolandelelwano oludityanisiweyo kwi-genome eyidrafti kunye nokubethelela ezo kwinani elithile lekhromozomi.Obu buchwepheshe buxhobisa indibano yegenome yenqanaba lechromosome ngokungabikho kwemephu yemfuzo esekwe ngabantu.Yonke i-genome enye idinga i-Hi-C.
Iqonga: I-Illumina NovaSeq Platform / DNBSEQ
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Isityalo/Isilwanyana saseDe Novo Genome Sequencing
De Novoulandelelwano lubhekisa kulwakhiwo lohlobo lwe-genome epheleleyo kusetyenziswa ubugcisa bokulandelelana, umz. i-PacBio, i-Nanopore, i-NGS, njl.Uphuculo oluphawulekayo kubude bokufunda besizukulwana sesithathu sobuchwephesha bokulandelelana buye bazisa amathuba amatsha ekuhlanganiseni i-genomes entsonkothileyo, njengalezo ezine-heterozygosity ephezulu, umlinganiselo ophezulu wemimandla ephindaphindwayo, iipolyploids, njl. ukusombulula izinto eziphindaphindwayo, imimandla enomxholo we-GC ongaqhelekanga kunye neminye imimandla entsonkothileyo kakhulu.
Iqonga: I-PacBio Sequel II / Nanopore PromethION P48 / Illumina NovaSeq Platform
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Ulandelelwano lwe-Exome yoMntu
I-Whole exome sequencing (i-WES) ithathwa njengesicwangciso esiliqili sokulandelelanisa iindleko zokuchonga iinguqu ezibangela izifo.Nangona i-exons ithatha kuphela malunga ne-1.7% ye-genome epheleleyo, imele iprofayili yemisebenzi yeprotheyini ngokuthe ngqo.Kwi-genome yomntu, kuye kwaxelwa ukuba ngaphezulu kwe-85% yotshintsho olunxulumene nesifo lwenzeka kwindawo yekhowudi yeprotheyini.
I-BMKGENE inikezela ngeenkonzo ezibanzi neziguquguqukayo zolandelelwano lwabantu ngokubanzi kunye neendlela ezahlukeneyo zokubamba ze-exon ezikhoyo ukuhlangabezana neenjongo ezahlukeneyo zophando.
Iqonga: I-Illumina NovaSeq Platform
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I-Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
I-genotyping ephezulu, ngokukodwa kwinani elikhulu labantu, linyathelo elisisiseko kwizifundo zombutho wemfuza, obonelela ngesiseko sofuzo sofuzo olusebenzayo, uhlalutyo lwe-evolution, njl. Endaweni yolandelelwano olunzulu lwe-genome kwakhona, ukunciphisa ukumelwa kwe-genome sequencing (RRGS). ) yaziswa ukuze kuncitshiswe iindleko zolandelelwano ngesampulu nganye, ngeli lixa kugcinwe ukusebenza kakuhle ekufumaneni uphawu lwemfuzo.Oku kudla ngokuphunyezwa ngokutsala isiqwenga sothintelo ngaphakathi koluhlu lobungakanani obunikiweyo, olubizwa ngokuba yithala leencwadi lokumelwa elincitshisiweyo (RRL).I-Specific-locus amplified fragment sequencing (SLAF-Seq) sisicwangciso esiziphuhlisileyo se-SNP genotyping kunye okanye ngaphandle kwe-genome yesalathiso.
Iqonga: I-Illumina NovaSeq Platform
