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Genome-wide Association Analysis
Genome-wide association study (GWAS) cholinga chake ndi kuzindikira mitundu yosiyanasiyana ya majini (genotype) yomwe imakhudzana ndi makhalidwe enaake (phenotype).Kafukufuku wa GWAS amafufuza zolembera zamtundu wamtundu wonse wa anthu ambiri ndikulosera mayanjano a genotype-phenotype posanthula ziwerengero pamlingo wa anthu.Zakhala zikugwiritsidwa ntchito kwambiri pofufuza za matenda a anthu ndi migodi yogwira ntchito ya majini pa makhalidwe ovuta a nyama kapena zomera.
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Kutsata kwamtundu wa Zomera/Zinyama Zonse
Kusinthasintha kwamtundu wonse, komwe kumadziwikanso kuti WGS, kumathandizira kuwulula masinthidwe wamba komanso osowa pamtundu wonsewo kuphatikiza Single Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure variation (SV), ndi Copy Number Variation (CNV). ).Ma SVs amapanga gawo lalikulu la kusiyana kosiyana kusiyana ndi SNPs ndipo zimakhudza kwambiri majeremusi, zomwe zimakhudza kwambiri zamoyo.Kuwerengeranso kwanthawi yayitali kumathandizira kuzindikirika bwino kwa zidutswa zazikulu komanso kusiyanasiyana kovutirapo chifukwa kuwerenga kwautali kumapangitsa kuti zikhale zosavuta kuwoloka madera ovuta monga kubwereza tandem, madera olemera a GC/AT, ndi zigawo zosinthika kwambiri.
Platform: Illumina, PacBio, Nanopore
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Evolutionary Genetics
Evolutionary genetics ndi ntchito yotsatizana yomwe idapangidwa kuti ipereke kutanthauzira kwatsatanetsatane pazachisinthiko zazinthu zoperekedwa motengera kusiyanasiyana kwa majini, kuphatikiza ma SNP, InDels, SVs ndi CNVs.Lili ndi zofufuza zonse zofunika pofotokoza za kusintha kwa chisinthiko ndi maonekedwe a anthu, monga chiwerengero cha anthu, kusiyana kwa majini, maubwenzi a phylogeny, ndi zina zotero. Lilinso ndi maphunziro okhudza kutuluka kwa majini, zomwe zimapereka mphamvu kuyerekezera kukula kwa chiwerengero cha anthu, nthawi ya kusiyana.
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Kufananiza Genomics
Comparative genomics kwenikweni amatanthauza kufanizitsa ndondomeko yonse ya ma genome ndi mapangidwe a mitundu yosiyanasiyana.Lamuloli likufuna kuwulula zakusintha kwa mitundu, magwiridwe antchito a majini, njira yoyendetsera ma jini pamlingo wa genome pozindikira momwe amayenderana ndi zinthu zomwe zimasunga kapena kusiyanitsa mitundu yosiyanasiyana yamitundu.Kafukufuku wofananira wa ma genomics amaphatikizanso kusanthula m'banja la majini, kakulidwe kachisinthiko, kubwerezabwereza kwamtundu wonse, kukakamiza kosankha, ndi zina zambiri.
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Hi-C yochokera ku 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 imatha kuwongolera kusanjika, kuyitanitsa ndi kuwongolera katsatidwe kamene kamasonkhanitsidwa mumtundu wa ma genome ndikumangirira iwo pamitundu ina ya ma chromosome.Ukadaulo uwu umathandizira kuphatikiza kwa ma chromosome genome popanda mapu otengera kuchuluka kwa anthu.Genome iliyonse imafunikira Hi-C.
Pulatifomu: Illumina NovaSeq Platform / DNBSEQ
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Zomera / Zinyama za De Novo Genome Sequencing
De Novokutsatizana kumatanthauza kupanga matupi amtundu wonse wa zamoyo pogwiritsa ntchito umisiri wotsatizana, mwachitsanzo, PacBio, Nanopore, NGS, ndi zina zotero, ngati palibe jini lolozera.Kuwongolera kodabwitsa pakuwerenga kwautali waukadaulo wotsatizana wa m'badwo wachitatu kwabweretsa mwayi watsopano pakusonkhanitsa ma genome ovuta, monga omwe ali ndi heterozygosity yayikulu, chiŵerengero chachikulu cha zigawo zobwerezabwereza, ma polyploids, ndi zina zambiri. Kuthetsa zinthu zobwerezabwereza, zigawo zomwe zili ndi GC zosadziwika bwino ndi zigawo zina zovuta kwambiri.
Platform: PacBio Sequel II / Nanopore PromethION P48 / Illumina NovaSeq Platform
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Sequencing ya Human Whole Exome
Whole exome sequencing (WES) imatengedwa ngati njira yotsika mtengo yodziwira masinthidwe omwe amayambitsa matenda.Ngakhale ma exons amangotenga pafupifupi 1.7% ya genome yonse, imayimira mbiri ya mapuloteni onse omwe amagwira ntchito mwachindunji.Mu genome ya anthu, zanenedwa kuti kupitilira 85% ya masinthidwe okhudzana ndi matenda kumachitika m'chigawo cha protein coding.
BMKGENE imapereka njira zotsatirira komanso zosinthika za anthu okhala ndi njira zosiyanasiyana zojambulira ma exon zomwe zilipo kuti zikwaniritse zolinga zosiyanasiyana za kafukufuku.
Pulatifomu: Illumina NovaSeq Platform
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Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
Ma genotyping apamwamba kwambiri, makamaka pa anthu ochuluka, ndi gawo lofunikira kwambiri pa maphunziro a ma genetic, omwe amapereka maziko a chibadwa cha kutulukira kwa majini, kusanthula kwachisinthiko, ndi zina zotero. ) imayambitsidwa pofuna kuchepetsa mtengo wotsatizanatsatizana pachitsanzo chilichonse, komanso kukhalabe ndi luso lokwanira pakutulukira kwa chibadwa.Izi nthawi zambiri zimatheka pochotsa chidutswa choletsa mkati mwa kukula kwake, chomwe chimatchedwa laibulale yoyimira (RRL).Specific-locus amplified fragment sequencing (SLAF-Seq) ndi njira yodzipangira yokha ya SNP genotyping yokhala ndi kapena popanda genome.
Pulatifomu: Illumina NovaSeq Platform
