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Binciken Ƙungiya mai Faɗi
Manufar Cibiyar Nazarin Ƙungiyar Genome-Wide (GWAS) ita ce gano bambance-bambancen kwayoyin halitta (genotypes) da ke da alaƙa da takamaiman halaye (phenotypes). Ta hanyar bincika alamomin kwayoyin halitta a cikin dukkanin kwayoyin halitta a cikin adadi mai yawa na daidaikun mutane, GWAS yana fitar da ƙungiyoyin genotype-phenotype ta hanyar nazarin ƙididdiga na matakin yawan jama'a. Wannan dabarar tana samun aikace-aikace masu yawa a cikin binciken cututtukan ɗan adam da kuma bincika ƙwayoyin halittar aiki masu alaƙa da hadaddun halaye a cikin dabbobi ko tsirrai.
A BMKGENE, muna ba da hanyoyi guda biyu don gudanar da GWAS akan yawan jama'a: yin amfani da Duk-Geneme Sequencing (WGS) ko zaɓi don rage wakilcin tsarin tsarin kwayoyin halitta, ƙayyadaddun ƙayyadaddun Locus Amplified Fragment (SLAF) na cikin gida. Yayin da WGS ya dace da ƙananan kwayoyin halitta, SLAF yana fitowa azaman madadin farashi mai tsada don nazarin yawan jama'a tare da dogon genomes, yadda ya kamata rage farashin jeri, yayin da ke ba da garantin babban aikin gano kwayoyin halitta.
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Tsarin Tsiro/Dabbobi Gabaɗayan Halitta
Dukkanin Tsarin Halittu (WGS), wanda kuma aka sani da resequencing, yana nufin gabaɗayan jerin kwayoyin halitta na mutane daban-daban na nau'ikan tare da sanannun kwayoyin halitta. A kan haka, ana iya ƙara gano bambance-bambancen bambance-bambancen jinsin mutane ko al'ummomi. WGS yana ba da damar gano Single Nucleotide Polymorphism (SNP), Sharer Deletion (InDel), Bambancin Tsarin (SV), da Bambancin Lambar Kwafi (CNV). SVs sun ƙunshi babban yanki na tushen bambance-bambance fiye da SNPs kuma suna da babban tasiri akan kwayoyin halitta, yana shafar rayayyun halittu. Duk da yake gajeriyar karatun karatun yana da tasiri wajen gano SNPs da InDels, karatun da aka daɗe yana ba da damar ƙarin madaidaicin gano manyan gutsuttsura da bambance-bambance masu rikitarwa.
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Juyin Halitta
Ƙwayoyin Juyin Halitta cikakken sabis ne na jeri da aka tsara don ba da cikakkiyar fassarar juyin halitta a cikin babban rukuni na mutane, dangane da bambance-bambancen kwayoyin halitta, gami da SNPs, InDels, SVs, da CNVs. Wannan sabis ɗin ya ƙunshi duk mahimman nazarin da ake buƙata don fayyace sauye-sauyen juyin halitta da halayen kwayoyin halitta na yawan jama'a, gami da kimanta tsarin yawan jama'a, bambancin kwayoyin halitta, da alaƙar halittu. Haka kuma, yana zurfafa bincike kan kwararar kwayoyin halitta, yana ba da damar kimanta ingancin girman yawan jama'a da lokacin rarrabuwa. Nazarin kwayoyin halitta na juyin halitta suna ba da haske mai mahimmanci game da asali da daidaitawar jinsuna.
A BMKGENE, muna ba da hanyoyi guda biyu don gudanar da nazarin ilimin halittu na juyin halitta akan yawan jama'a: yin amfani da tsarin tsarin halittar gabaɗaya (WGS) ko zaɓin rage wakilcin tsarin jerin kwayoyin halitta, ƙayyadaddun ƙayyadaddun Locus Amplified Fragment (SLAF) na cikin gida. Yayin da WGS ya dace da ƙananan kwayoyin halitta, SLAF yana fitowa azaman madadin farashi mai tsada don nazarin yawan jama'a tare da dogon genomes, yadda ya kamata rage yawan farashi.
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Kwatanta Genomics
Kwatanta kwayoyin halitta sun haɗa da bincike da kwatanta dukkanin jerin kwayoyin halitta da sifofi a tsakanin nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan nau'ikan halittu ne. Wannan filin yana neman bayyana juyin halittar nau'in, yanke ayyukan kwayoyin halitta, da kuma bayyana hanyoyin sarrafa kwayoyin halitta ta hanyar gano tsare-tsaren tsare-tsaren tsare-tsare ko mabanbanta da abubuwa a cikin halittu daban-daban. Cikakken binciken kwatancen genomics ya ƙunshi nazari kamar dangin jinsin halitta, haɓakar juyin halitta, al'amuran kwafi gaba ɗaya, da tasirin matsi na zaɓi.
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Hi-C Based 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. Don haka, ana amfani da bayanan Hi-C don jagorar tari, oda, da daidaita jerin abubuwan da aka taru a cikin daftarin kwayoyin halitta da kuma rataya waɗancan kan takamaiman adadin chromosomes. Wannan fasaha tana ba da ƙarfin taro na matakin chromosome a cikin rashin taswirar jinsin jama'a. Kowane genome guda ɗaya yana buƙatar Hi-C.
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Tsarin Shuka/ Dabba De Novo Genome Sequencing
Da Novosequencing yana nufin gina nau'in 'genome' gaba ɗaya ta amfani da fasahohin jeri a cikin rashi kwayoyin halitta. Gabatarwa da yaɗuwar karɓowar jerin tsararraki na ƙarni na uku, waɗanda ke nuna tsayin karatu, sun haɓaka haɗaɗɗun kwayoyin halitta sosai ta hanyar haɓaka haɗuwa tsakanin karantawa. Wannan haɓakawa yana da mahimmanci musamman lokacin da ake fuskantar ƙalubalen ƙwayoyin cuta, kamar waɗanda ke nuna babban heterozygosity, babban rabo na yankuna masu maimaitawa, polyploids, da yankuna tare da abubuwa masu maimaitawa, abubuwan da ke cikin GC mara kyau, ko babban hadaddun waɗanda galibi ba su taru ta amfani da jerin gajerun karantawa. kadai.
Maganin mu na tsayawa ɗaya yana ba da sabis na haɗaɗɗen jeri da bincike na bioinformatic wanda ke ba da ingantaccen tsarin de novo haɗe-haɗe. Binciken farko na genome tare da Illumina yana ba da ƙididdiga na girman kwayoyin halitta da rikitarwa, kuma ana amfani da wannan bayanin don jagorantar mataki na gaba na jerin dogon karantawa tare da PacBio HiFi, wanda ya biyo baya.da novotaro na contigs. Yin amfani da taron HiC na gaba yana ba da damar ɗora ƙugiya zuwa kwayoyin halitta, samun taron matakin-chromosome. A ƙarshe, ana tantance kwayar halittar ta hanyar tsinkayar kwayoyin halitta da kuma jera nau'ikan halittun da aka bayyana, da yin amfani da rubutattun rubuce-rubuce tare da gajeru da dogon karantawa.
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Tsarin Dan Adam Gabaɗaya Exome
Human Whole exome sequencing (hWES) an yarda da shi azaman hanya mai inganci mai tsada kuma mai ƙarfi don tantance maye gurbi masu haifar da cuta. Duk da kasancewar kusan kashi 1.7% na dukkan kwayoyin halitta, exons suna taka muhimmiyar rawa ta hanyar nuna bayanan ayyukan furotin kai tsaye. Musamman ma, a cikin kwayoyin halittar ɗan adam, sama da kashi 85% na maye gurbi masu alaƙa da cututtuka suna bayyana a cikin yankunan da ake shigar da furotin. BMKGENE yana ba da cikakkiyar sabis na jeri na ɗan adam mai sassauƙa tare da dabarun ɗaukar dabaru daban-daban guda biyu don cimma burin bincike daban-daban.
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Takamaiman-Locus Amplified Sequencing Sequencing (SLAF-Seq)
Babban aikin genotyping, musamman akan yawan jama'a, mataki ne na asali a cikin nazarin ƙungiyar kwayoyin halitta kuma yana ba da tushen tushen kwayoyin halitta don gano kwayoyin halittar aiki, nazarin juyin halitta, da sauransu. Maimakon zurfin tsarin sake fasalin kwayoyin halitta,Rage Wakilci Tsarin Tsarin Halittu (RRGS)galibi ana amfani da shi a cikin waɗannan karatun don rage ƙimar jeri kowane samfuri yayin da ake ci gaba da ingantaccen aiki a cikin gano alamar kwayoyin halitta. RRGS yana samun wannan ta hanyar narkar da DNA tare da ƙuntatawa enzymes da kuma mai da hankali kan takamaiman girman girman guntu, ta haka ne ke tsara juzu'i na kwayoyin halitta. Daga cikin hanyoyin RRGS iri-iri, Specific-Locus Amplified Fragment Sequencing (SLAF) tsari ne na musamman da inganci. Wannan hanyar, wacce BMKGene ta haɓaka ta kanta, tana haɓaka ƙayyadaddun enzyme da aka saita don kowane aiki. Wannan yana tabbatar da samar da adadi mai yawa na alamun SLAF (yankin 400-500 bps na genome da ake jera su) waɗanda aka rarraba iri ɗaya a cikin kwayoyin halitta yayin da suke guje wa yankuna masu maimaitawa yadda ya kamata, don haka yana tabbatar da mafi kyawun gano alamun kwayoyin halitta.
