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Genome-wide Association Analysis
Lub hom phiaj ntawm Genome-Wide Association Studies (GWAS) yog txhawm rau txheeb xyuas cov kab mob sib txawv (genotypes) txuas rau cov yam ntxwv tshwj xeeb (phenotypes). Los ntawm kev txheeb xyuas cov cim caj ces thoob plaws tag nrho cov genome hauv ntau tus neeg, GWAS ntxiv cov koom haum genotype-phenotype los ntawm kev txheeb xyuas cov pej xeem-theem. Cov txheej txheem no pom cov ntawv siv dav hauv kev tshawb fawb tib neeg cov kab mob thiab tshawb nrhiav cov noob ua haujlwm muaj feem xyuam nrog cov yam ntxwv nyuaj hauv cov tsiaj lossis cov nroj tsuag.
Ntawm BMKGENE, peb muab ob txoj hauv kev los ua GWAS rau cov neeg coob coob: ntiav Whole-Genome Sequencing (WGS) lossis xaiv rau kev txo qis sawv cev genome sequencing txoj kev, hauv tsev-tsim Specific-Locus Amplified Fragment (SLAF). Thaum WGS haum rau cov genomes me, SLAF tshwm sim los ua ib qho txiaj ntsig zoo rau kev kawm cov neeg loj dua nrog cov genomes ntev, txo qis cov nqi sequencing, thaum lav qhov kev tshawb nrhiav cov noob caj noob ces siab.
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Nroj / Tsiaj Tag Nrho Genome Sequencing
Whole Genome Sequencing (WGS), tseem hu ua resequencing, yog hais txog tag nrho cov genome sequencing ntawm cov neeg sib txawv ntawm hom uas paub siv genomes. Raws li qhov no, qhov sib txawv genomic ntawm cov tib neeg lossis cov pej xeem tuaj yeem txheeb xyuas ntxiv. WGS tso cai rau kev txheeb xyuas ntawm Ib Leeg Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure variation (SV), thiab Copy Number Variation (CNV). SVs suav nrog ib feem loj ntawm qhov hloov pauv ntau dua li SNPs thiab muaj kev cuam tshuam ntau dua rau cov genome, cuam tshuam rau cov kab mob nyob. Txawm hais tias kev nyeem ntawv luv luv ua tau zoo hauv kev txheeb xyuas SNPs thiab InDels, kev nyeem ntawv ntev ntev tso cai rau kev txheeb xyuas qhov tseeb ntawm cov tawg loj thiab cov kev hloov pauv nyuaj.
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Evolutionary noob caj noob ces
Evolutionary Genetics yog ib qho kev pabcuam sib txuas ua ke tsim los muab kev txhais lus zoo ntawm kev hloov pauv hauv ib pawg neeg coob, raws li kev hloov pauv caj ces, suav nrog SNPs, InDels, SVs, thiab CNVs. Qhov kev pabcuam no suav nrog txhua qhov kev tshuaj xyuas tseem ceeb uas xav tau los qhia txog kev hloov pauv hloov pauv thiab cov yam ntxwv ntawm cov noob caj noob ces, suav nrog kev ntsuas ntawm cov qauv ntawm cov pejxeem, kev sib txawv ntawm caj ces, thiab kev sib raug zoo ntawm phylogenetic. Tsis tas li ntawd, nws delves rau hauv kev tshawb fawb ntawm cov noob ntws, ua rau kev kwv yees ntawm cov pej xeem zoo thiab lub sijhawm sib txawv. Evolutionary genetics cov kev tshawb fawb tau muab cov kev nkag siab zoo rau hauv keeb kwm thiab kev hloov pauv ntawm hom.
Ntawm BMKGENE, peb muab ob txoj hauv kev rau kev ua cov kev tshawb fawb txog noob caj noob ces ntawm cov neeg coob: ua haujlwm tag nrho-genome sequencing (WGS) lossis xaiv rau kev txo qis sawv cev genome sequencing txoj kev, hauv tsev-tsim Specific-Locus Amplified Fragment (SLAF). Thaum WGS haum rau cov genomes me, SLAF tshwm sim los ua ib qho txiaj ntsig zoo rau kev kawm cov neeg loj dua nrog cov genomes ntev dua, txo qis cov nqi sequencing.
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Sib piv Genomics
Kev sib piv genomics suav nrog kev tshuaj xyuas thiab kev sib piv ntawm tag nrho cov genome sequences thiab cov qauv ntawm ntau hom. Daim teb no nrhiav kev nthuav tawm cov evolution ntawm hom, txiav txim siab gene functions, thiab elucidate cov genetic regulatory mechanisms los ntawm kev txheeb xyuas cov conserved los yog divergent sequence qauv thiab cov ntsiab lus nyob rau hauv ntau yam kab mob. Kev tshawb fawb txog kev sib piv genomics suav nrog kev txheeb xyuas xws li cov tsev neeg cov noob, kev txhim kho kev hloov pauv, tag nrho-genome duplication txheej xwm, thiab qhov cuam tshuam ntawm cov kev xaiv xaiv.
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Hi-C Based Genome Assembly
Hi-C yog ib txoj hauv kev tsim los ntes chromosome configuration los ntawm kev sib txuas kev soj ntsuam raws li kev sib cuam tshuam thiab kev sib tw siab. Qhov kev siv ntawm cov kev sib cuam tshuam no ntseeg tau tias muaj kev cuam tshuam tsis zoo nrog lub cev nyob deb ntawm chromosomes. Yog li ntawd, Hi-C cov ntaub ntawv yog siv los coj cov pawg, kev txiav txim, thiab kev taw qhia ntawm cov kab ke sib dhos hauv cov txheej txheem genome thiab khi rau cov uas mus rau qee tus lej ntawm chromosomes. Cov thev naus laus zis no txhawb nqa lub chromosome-theem genome los ua ke thaum tsis muaj daim ntawv qhia txog noob caj noob ces. Txhua lub genome xav tau Hi-C.
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Nroj / Tsiaj De Novo Genome Sequencing
De Novosequencing yog hais txog kev tsim kho ntawm ib hom genome tag nrho siv cov thev naus laus zis sib txuas hauv qhov tsis muaj kev siv genome. Kev taw qhia thiab kev siv dav dav ntawm kev sib txuas thib peb, uas muaj kev nyeem ntawv ntev dua, tau txhim kho genome los ua ke los ntawm kev nce qhov sib tshooj ntawm kev nyeem. Qhov kev txhim kho no tshwj xeeb tshaj yog cuam tshuam thaum cuam tshuam nrog cov genomes nyuaj, xws li cov uas muaj heterozygosity siab, qhov sib piv siab ntawm cov cheeb tsam rov qab, polyploids, thiab cov cheeb tsam nrog cov khoom rov ua dua, cov ntsiab lus tsis zoo ntawm GC, lossis cov complexity siab uas feem ntau tsis zoo sib sau ua ke siv luv luv nyeem sequencing. ib leeg.
Peb qhov kev daws teeb meem ib leeg muab cov kev pabcuam sib txuas ua ke thiab kev tshuaj xyuas bioinformatic uas xa cov khoom zoo ntawm novo sib sau ua ke genome. Thawj qhov kev tshawb fawb genome nrog Illumina muab kev kwv yees ntawm genome loj thiab nyuaj, thiab cov ntaub ntawv no yog siv los coj cov kauj ruam tom ntej ntawm kev nyeem ntawv ntev nrog PacBio HiFi, ua raws li.de novsib dhos ntawm contigs. Kev siv tom ntej ntawm HiC sib dhos ua kom muaj kev sib txuas ntawm cov kab mob mus rau genome, tau txais chromosome-theem sib dhos. Thaum kawg, lub genome yog piav qhia los ntawm kev kwv yees cov noob thiab los ntawm kev sib txuas cov noob caj noob ces, hloov mus rau cov ntawv sau nrog luv luv thiab ntev nyeem.
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Human Whole Exome Sequencing
Human Whole exome sequencing (hWES) yog dav lees paub tias yog ib qho txiaj ntsig zoo thiab muaj zog sib txuas rau kev txheeb xyuas cov kab mob uas ua rau muaj kev hloov pauv. Txawm hais tias tsuas yog kwv yees li 1.7% ntawm tag nrho cov genome, exons ua lub luag haujlwm tseem ceeb los ntawm kev cuam tshuam ncaj qha rau qhov profile ntawm tag nrho cov protein ua haujlwm. Qhov tseem ceeb, hauv tib neeg genome, ntau dua 85% ntawm kev hloov pauv cuam tshuam nrog cov kab mob tshwm sim hauv thaj tsam protein coding. BMKGENE muab cov kev pabcuam dav dav thiab hloov tau yooj yim rau tib neeg tag nrho exome sequencing kev pabcuam nrog ob qhov sib txawv exon ntes cov tswv yim muaj los ua kom tau raws li ntau yam kev tshawb fawb lub hom phiaj.
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Specific-Locus Amplified Fragment Sequencing (SLAF-Seq)
High-throughput genotyping, tshwj xeeb tshaj yog nyob rau hauv loj-scale pej xeem, yog ib qho tseem ceeb kauj ruam nyob rau hauv kev tshawb fawb genetic koom haum thiab muab ib tug genetic hauv paus rau kev ua hauj lwm gene discovery, evolutionary tsom xam, thiab lwm yam. Tsis txhob sib sib zog nqus tag nrho genome re-sequencing,Txo Cov Neeg Sawv Cev Genome Sequencing (RRGS)feem ntau yog ua hauj lwm hauv cov kev tshawb fawb no kom txo qis tus nqi sequencing ib tus qauv thaum tswj kev ua haujlwm tsim nyog hauv kev tshawb nrhiav caj ces. RRGS ua tiav qhov no los ntawm kev zom cov DNA nrog kev txwv cov enzymes thiab tsom mus rau qhov tshwj xeeb fragment loj ntau yam, yog li sequencing tsuas yog ib feem ntawm cov genome. Ntawm cov txheej txheem RRGS ntau yam, Specific-Locus Amplified Fragment Sequencing (SLAF) yog ib txoj hauv kev kho kom haum thiab zoo. Txoj kev no, tsim nws tus kheej los ntawm BMKGene, optimizes txwv enzyme teem rau txhua qhov project. Qhov no ua kom muaj ntau tus lej ntawm SLAF cov cim npe (400-500 bps cheeb tsam ntawm cov genome tau ua ntu zus) uas tau muab faib ua ke thoob plaws lub genome thaum ua haujlwm kom tsis txhob rov ua dua thaj chaw, yog li ua pov thawj qhov zoo tshaj plaws genetic marker discovery.
