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Binciken Ƙungiya mai Faɗi
Nazarin ƙungiyar genome-wide (GWAS) yana nufin gano bambance-bambancen kwayoyin halitta (genotype) waɗanda ke da alaƙa da takamaiman halaye (phenotype).Nazarin GWAS yana bincika alamomin kwayoyin halitta sun haye dukkanin kwayoyin halittar mutane masu yawa kuma yana tsinkayar ƙungiyoyin genotype-phenotype ta ƙididdigar ƙididdiga a matakin yawan jama'a.An yi amfani da shi sosai a cikin bincike kan cututtukan ɗan adam da aikin haƙar ma'adinan kwayoyin halitta akan hadaddun halaye na dabbobi ko tsirrai.
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Tsarin Tsiro/Dabbobi Gabaɗayan Halitta
Dukkanin tsarin sake-sake-tsarin kwayoyin halitta, wanda kuma aka sani da WGS, yana ba da damar bayyanar da sauye-sauye na yau da kullun da na yau da kullun akan dukkan kwayoyin halittar da suka hada da Single Nucleotide Polymorphism (SNP), Sharewa Shiga (InDel), Bambancin Tsarin (SV), da Bambancin Lamba Kwafi (CNV). ).SVs sun ƙunshi babban ɓangare na tushen bambancin fiye da SNPs kuma suna da tasiri mafi girma akan kwayoyin halitta, wanda ke da tasiri mai mahimmanci akan rayayyun halittu.Tsawon karatu mai tsawo yana ba da damar ƙarin ainihin gano manyan gutsuttsura da bambance-bambance masu rikitarwa saboda dogon karantawa yana ba da sauƙin hayewar chromosomal akan yankuna masu rikitarwa kamar maimaita tandem, yankuna masu wadatar GC/AT, da yankuna masu saurin canzawa.
Platform: Illumina, PacBio, Nanopore
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Juyin Halitta
Juyin Halitta sabis ne mai cike da jeri wanda aka ƙera don samar da cikakkiyar fassarar bayanan juyin halitta na kayan da aka bayar dangane da bambance-bambancen kwayoyin halitta, gami da SNPs, InDels, SVs da CNVs.Yana bayar da duk mahimman bincike da ake buƙata don kwatanta sauye-sauyen juyin halitta da sifofin kwayoyin halitta na yawan jama'a, kamar tsarin yawan jama'a, bambancin jinsin halitta, dangantakar phylogeny, da dai sauransu. Hakanan ya ƙunshi nazari akan kwararar kwayoyin halitta, wanda ke ba da damar kimanta ingancin girman yawan jama'a, lokacin rarrabuwa.
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Kwatanta Genomics
Kwatankwacin ilimin genomics a zahiri yana nufin kwatanta cikakken jerin kwayoyin halitta da sigar nau'ikan nau'ikan nau'ikan nau'ikan.Wannan horon yana nufin bayyanar da juyin halittar nau'in halitta, aikin kwayoyin halitta, tsarin sarrafa kwayoyin halitta a matakin kwayoyin halitta ta hanyar gano tsarin tsari da abubuwan da aka kiyaye ko bambanta a cikin nau'ikan nau'ikan daban-daban.Nazari na kwatankwacin ilimin genomics na yau da kullun ya haɗa da nazari a cikin dangin jinsin halitta, haɓakar juyin halitta, kwafin kwayoyin halitta gabaɗaya, matsa lamba, da sauransu.
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Hi-C tushen Genome Assembly
Hi-C wata hanya ce da aka ƙera don ɗaukar daidaitawar chromosome ta hanyar haɗa ma'amala ta tushen kusanci da babban tsarin aiwatarwa.An yi imanin ƙarfin waɗannan hulɗar yana da alaƙa mara kyau tare da nisa ta jiki akan chromosomes.Saboda haka, bayanan Hi-C na iya jagorantar tari, oda da daidaita jerin abubuwan da aka haɗa a cikin daftarin kwayoyin halitta da kuma rataye su akan takamaiman adadin chromosomes.Wannan fasaha tana ba da ƙarfin taro na matakin chromosome ba tare da taswirar tushen yawan jama'a ba.Kowane genome guda ɗaya yana buƙatar Hi-C.
Platform: Illumina NovaSeq Platform / DNBSEQ
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Tsarin Shuka/ Dabba De Novo Genome Sequencing
De Novosequencing na nufin gina wani nau'i 'dukan kwayoyin halitta ta hanyar amfani da fasahohin jeri, misali PacBio, Nanopore, NGS, da dai sauransu, in babu kwayar halitta.Haɓakawa mai ban sha'awa a cikin tsayin karantawa na fasahar jerin tsararrun ƙarni na uku ya kawo sabbin damammaki a haɗa hadaddun kwayoyin halitta, kamar waɗanda ke da babban heterozygosity, babban rabo na yankuna masu maimaitawa, polyploids, da sauransu. warware abubuwa masu maimaitawa, yankuna tare da abubuwan da ke cikin GC mara kyau da sauran yankuna masu rikitarwa.
Platform: PacBio Sequel II/Nanopore PromethION P48/ Illumina NovaSeq Platform
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Tsarin Dan Adam Gabaɗaya Exome
Ana ɗaukarsa gabaɗaya exome sequencing (WES) azaman dabarar jeri mai tsada don gano maye gurbi masu haifar da cututtuka.Kodayake exons kawai suna ɗaukar kusan 1.7% na dukkan kwayoyin halitta, yana wakiltar bayanin martabar ayyukan furotin kai tsaye.A cikin kwayoyin halittar dan adam, an bayar da rahoton cewa fiye da kashi 85% na sauye-sauyen da ke da alaka da cututtuka suna faruwa a yankin da ake kira furotin.
BMKGENE yana ba da cikakkun ayyuka masu sassaucin ra'ayi na ɗan adam gabaɗayan exome sequencing tare da dabaru daban-daban na kamawa don cimma burin bincike daban-daban.
Platform: Illumina NovaSeq Platform
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Takamaiman-Locus Amplified Sequencing Sequencing (SLAF-Seq)
Ƙwararren ƙwayar cuta mai girma, musamman a kan yawan jama'a, wani muhimmin mataki ne a cikin nazarin ƙungiyoyin kwayoyin halitta, wanda ke ba da tushen kwayoyin halitta don gano aikin kwayoyin halitta, nazarin juyin halitta, da dai sauransu. Maimakon zurfin sake sake tsarin kwayoyin halitta, rage yawan wakilcin kwayoyin halitta (RRGS). ) an gabatar da shi don rage farashin jeri akan kowane samfuri, yayin da ake kiyaye ingantaccen aiki akan gano alamun kwayoyin halitta.Ana samun wannan galibi ta hanyar ciro ɓangarorin taƙaitawa a cikin kewayon girman da aka ba, wanda ake kiran sunan ɗakin karatu na wakilci (RRL).Specific-locus amplified fragment sequencing (SLAF-Seq) dabara ce ta ci gaba da kai don SNP genotyping tare da ko ba tare da genome na tunani ba.
Platform: Illumina NovaSeq Platform
