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Genome-wide Association Analysis
Cholinga cha Genome-Wide Association Studies (GWAS) ndikuzindikira mitundu yosiyanasiyana ya majini (genotypes) yokhudzana ndi makhalidwe enaake (phenotypes). Poyang'ana zizindikiro za majini pamtundu wonse wa anthu mwa anthu ambiri, GWAS imatulutsa mayanjano a genotype-phenotype kupyolera mu kusanthula kwa chiwerengero cha anthu. Njira imeneyi imapeza ntchito zambiri pofufuza matenda a anthu ndi kufufuza majini ogwira ntchito okhudzana ndi makhalidwe ovuta a zinyama kapena zomera.
Ku BMKGENE, timapereka njira ziwiri zoyendetsera GWAS pa anthu ochuluka: kugwiritsa ntchito Whole-Genome Sequencing (WGS) kapena kusankha njira yochepetsera yoyimira ma genome, yopangidwa mkati mwa Specific-Locus Amplified Fragment (SLAF). Ngakhale kuti WGS imagwirizana ndi ma genome ang'onoang'ono, SLAF imatuluka ngati njira yotsika mtengo yowerengera anthu okulirapo okhala ndi ma genome aatali, kuchepetsa mtengo wotsatizana, ndikuwonetsetsa kuti chidziwitso cha chibadwa chapamwamba.
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Kutsata kwamtundu wa Zomera/Zinyama Zonse
Whole Genome Sequencing (WGS), yomwe imadziwikanso kuti requencing, imatanthawuza kutsatizana kwamitundu yonse yamitundu yosiyanasiyana yokhala ndi ma genome odziwika. Pamaziko awa, kusiyana kwa ma genomic kwa anthu kapena kuchuluka kwa anthu kumatha kudziwikanso. WGS imathandizira kuzindikira Single Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure Variation (SV), ndi Copy Number Variation (CNV). Ma SV amakhala ndi gawo lalikulu la masinthidwe osiyanasiyana kuposa ma SNP ndipo amakhudza kwambiri ma genome, zomwe zimakhudza kwambiri zamoyo. Ngakhale kuti kuwerengera mwachidule kumakhala kothandiza pakuzindikiritsa ma SNP ndi ma InDels, kuwerengeranso kwanthawi yayitali kumalola kuzindikirika bwino kwa zidutswa zazikulu ndi zosiyana zovuta.
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Evolutionary Genetics
Evolutionary Genetics ndi ntchito yotsatizana yomwe idapangidwa kuti ipereke kutanthauzira kwanzeru kwa chisinthiko mkati mwa gulu lalikulu la anthu, kutengera kusiyanasiyana kwa majini, kuphatikiza ma SNP, InDels, SVs, ndi CNVs. Ntchitoyi ikuphatikiza kusanthula konse kofunikira kuti timvetsetse kusintha kwa chisinthiko ndi mawonekedwe amtundu wa anthu, kuphatikiza kuwunika kwa kuchuluka kwa anthu, kusiyanasiyana kwa majini, ndi maubale a phylogenetic. Kuphatikiza apo, imayang'ana mu maphunziro okhudza kutuluka kwa majini, zomwe zimathandizira kuyerekezera kuchuluka kwa anthu komanso nthawi yosiyana. Maphunziro a chisinthiko cha majini amapereka chidziwitso chofunikira pa chiyambi ndi kusintha kwa zamoyo.
Ku BMKGENE, timapereka njira ziwiri zopangira maphunziro a chisinthiko cha chibadwa pa anthu ambiri: kugwiritsa ntchito ma genetic sequencing (WGS) kapena kusankha njira yochepetsera yoyimira ma genome, yopangidwa mkati mwa Specific-Locus Amplified Fragment (SLAF). Ngakhale WGS imagwirizana ndi ma genome ang'onoang'ono, SLAF imatuluka ngati njira yotsika mtengo yowerengera anthu okulirapo omwe ali ndi ma genome aatali, ndikuchepetsa mtengo wotsatizana.
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Kufananiza Genomics
Kuyerekeza ma genomics kumakhudzanso kuwunika ndi kufananiza magawo onse a ma genome ndi kapangidwe kake pakati pa mitundu yosiyanasiyana. Gawoli likufuna kuwulula za kusinthika kwa zamoyo, kuzindikira momwe majini amagwirira ntchito, ndikuwunikira njira zoyendetsera ma genetic pozindikira momwe zimasungidwira kapena zotsatizana ndi zinthu zamoyo zosiyanasiyana. Kafukufuku wofananira wa ma genomics amaphatikizapo kusanthula monga mabanja a majini, kakulidwe ka chisinthiko, zochitika zamitundu yonse, komanso zotsatira za kukakamiza kosankha.
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Hi-C Based Genome Assembly
Hi-C ndi njira yomwe idapangidwa kuti ijambule masinthidwe a chromosome pophatikiza kuyesa kuyanjana kochokera kufupi ndi kutsata kwapamwamba. Kukula kwa kuyanjana uku kumakhulupirira kuti kumalumikizidwa moyipa ndi kutalika kwa ma chromosome. Chifukwa chake, data ya Hi-C imagwiritsidwa ntchito kutsogolera kusanja, kuyitanitsa, ndi kalozera wa ma kromozomu omwe asonkhanitsidwa mu janimu yokonzekera ndikulumikiza ma chromosome angapo. Ukadaulo uwu umathandizira kuphatikiza kwa ma chromosome genome popanda mapu otengera kuchuluka kwa anthu. Genome iliyonse imafunikira Hi-C.
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Zomera / Zinyama za De Novo Genome Sequencing
De Novokutsatizana kumatanthauza kupanga ma genome amtundu wonse pogwiritsa ntchito umisiri wotsatizana popanda ma genome. Kuyamba ndi kufalikira kwa kutsatizana kwa m'badwo wachitatu, wokhala ndi kuwerenga kwanthawi yayitali, kwathandizira kwambiri kuphatikiza kwa ma genome pakuwonjezera kuphatikizika pakati pa zowerenga. Kupititsa patsogolo kumeneku kumakhala koyenera makamaka polimbana ndi ma genome ovuta, monga omwe amawonetsa heterozygosity yapamwamba, chiwerengero chachikulu cha zigawo zobwerezabwereza, ma polyploids, ndi zigawo zomwe zimakhala ndi zinthu zobwerezabwereza, zomwe zili mu GC zachilendo, kapena zovuta kwambiri zomwe nthawi zambiri zimasonkhanitsidwa bwino pogwiritsa ntchito masanjidwe afupipafupi. yekha.
Yankho lathu loyimitsa limodzi limapereka ntchito zophatikizika zotsatizana komanso kusanthula kwa bioinformatic komwe kumapereka mtundu wapamwamba kwambiri wa de novo assembled genome. Kufufuza koyambirira kwa ma genome ndi Illumina kumapereka kuyerekezera kwa kukula ndi zovuta za genome, ndipo chidziwitsochi chimagwiritsidwa ntchito kutsogolera gawo lotsatira la kuwerengera kwanthawi yayitali ndi PacBio HiFi, kutsatiridwa ndindi novomsonkhano wa contigs. Kugwiritsiridwa ntchito kotsatira kwa msonkhano wa HiC kumathandizira kukhazikika kwa ma contigs ku genome, kupeza msonkhano wa chromosome. Pomaliza, ma genome amatsimikiziridwa ndi kulosera kwa jini komanso potsata ma jini owonetsedwa, kutengera ma transcriptomes okhala ndi zowerengera zazifupi komanso zazitali.
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Sequencing ya Human Whole Exome
Human Whole exome sequencing (hWES) imadziwika kuti ndiyo njira yotsika mtengo komanso yamphamvu yolondolera masinthidwe omwe amayambitsa matenda. Ngakhale amangopanga pafupifupi 1.7% ya ma genome onse, ma exons amagwira ntchito yofunika kwambiri powonetsa momwe mapuloteni amagwirira ntchito. Makamaka, m'matupi aumunthu, kupitilira 85% ya masinthidwe okhudzana ndi matenda amawonekera mkati mwa zigawo zama protein. BMKGENE imapereka ntchito yokwanira komanso yosinthika ya anthu onse amtundu wa exome yokhala ndi njira ziwiri zojambulira za exon zomwe zilipo kuti zikwaniritse zolinga zosiyanasiyana za kafukufuku.
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Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
Kujambula kwapamwamba kwambiri, makamaka kwa anthu akuluakulu, ndi sitepe yofunika kwambiri pa maphunziro a chibadwa cha chibadwa ndipo imapereka maziko a majini ogwiritsira ntchito majini, kusanthula kwachisinthiko, ndi zina zotero.Kuchepetsa Kuyimilira kwa Genome Sequencing (RRGS)nthawi zambiri amagwiritsidwa ntchito m'maphunzirowa kuti achepetse mtengo wotsatirira pachitsanzo chilichonse ndikusunga bwino pakupezeka kwa ma genetic. RRGS imakwaniritsa izi pogaya DNA yokhala ndi ma enzymes oletsa ndikuyang'ana kagawo kakang'ono kachidutswa, potero amangotsata kachigawo kakang'ono ka genome. Mwanjira zosiyanasiyana za RRGS, Specific-Locus Amplified Fragment Sequencing (SLAF) ndi njira yosinthira makonda komanso yapamwamba kwambiri. Njira iyi, yopangidwa paokha ndi BMKGene, imakulitsa ma enzyme oletsa ntchito iliyonse. Izi zimatsimikizira kupangidwa kwa ma tag ochulukira a SLAF (magawo 400-500 bps a genome akutsatiridwa) omwe amagawidwa mofanana mumtundu wonse ndikupewa madera obwerezabwereza, kutsimikizira kupezedwa kwabwino kwa cholembera.
