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ʻIkepili ʻAhahui Genome-wide
ʻO ka pahuhopu o Genome-Wide Association Studies (GWAS) ʻo ia ka ʻike ʻana i nā ʻano genetic (genotypes) i hoʻopili ʻia i nā ʻano kikoʻī (phenotypes). Ma ka nānā ʻana i nā hōʻailona genetic ma waena o ka genome holoʻokoʻa i kahi heluna nui o nā kānaka, hoʻonui ʻo GWAS i nā hui genotype-phenotype ma o ka helu helu helu kanaka. Loaʻa kēia ʻano hana i nā noi nui i ka noiʻi ʻana i nā maʻi kanaka a me ka ʻimi ʻana i nā genes hana e pili ana i nā ʻano paʻakikī o nā holoholona a mea kanu paha.
Ma BMKGENE, hāʻawi mākou i ʻelua ala no ke alakaʻi ʻana i ka GWAS ma nā heluna nui: hoʻohana i ka Whole-Genome Sequencing (WGS) a i ʻole ke koho ʻana i kahi ala hoʻohālikelike genome sequencing hōʻemi, ʻo ka Specific-Locus Amplified Fragment (SLAF) i kūkulu ʻia i loko o ka hale. ʻOiai ua kūpono ka WGS i nā genome liʻiliʻi, ua puka mai ʻo SLAF ma ke ʻano he kumu kūʻai kūpono no ke aʻo ʻana i nā heluna nui me nā genomes lōʻihi, e hōʻemi pono ana i nā kumukūʻai sequencing, ʻoiai e hōʻoiaʻiʻo ana i kahi kiʻekiʻe o ka ʻike ʻana i ka hōʻailona genetic.
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Mea kanu/holoholona holoʻokoʻa Genome Sequencing
ʻO ka Whole Genome Sequencing (WGS), i ʻike ʻia ʻo resequencing, pili i ka hoʻonohonoho genome holoʻokoʻa o nā kānaka like ʻole o nā ʻano me nā genome kuhikuhi. Ma kēia kumu, hiki ke ʻike hou ʻia nā ʻokoʻa genomic o nā kānaka a i ʻole nā kānaka. Hiki i ka WGS ke hoʻomaopopo i ka Single Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure variation (SV), a me Copy Number Variation (CNV). Aia nā SV i kahi hapa nui o ka waihona hoʻololi ma mua o nā SNP a ʻoi aku ka hopena o ka genome, e pili nui ana i nā mea ola. ʻOiai ʻoi aku ka maikaʻi o ka resequencing heluhelu pōkole i ka ʻike ʻana i nā SNP a me InDels, hiki i ka resequencing heluhelu lōʻihi ke ʻike pololei i nā ʻāpana nui a me nā ʻano paʻakikī.
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Nā Genetics Evolutionary
ʻO ka Evolutionary Genetics kahi lawelawe hoʻonohonoho holoʻokoʻa i hoʻolālā ʻia e hāʻawi i kahi wehewehe ʻike o ka evolution i loko o kahi pūʻulu nui o nā kānaka, e pili ana i nā ʻano like ʻole, me nā SNP, InDels, SVs, a me CNVs. Hoʻopili kēia lawelawe i nā loiloi koʻikoʻi a pau e pono ai e wehewehe i nā loli evolutionary a me nā hiʻohiʻona genetic o ka heluna kanaka, me ka loiloi o ka hoʻonohonoho ʻana o ka heluna kanaka, ka ʻokoʻa genetic, a me nā pilina phylogenetic. Eia kekahi, ʻimi ʻo ia i nā haʻawina e pili ana i ke kahe ʻana o ke ʻano, e hiki ai i nā manaʻo o ka nui o ka heluna kanaka kūpono a me ka manawa ʻokoʻa. Hāʻawi nā haʻawina genetics Evolutionary i nā ʻike waiwai i ke kumu a me ka hoʻololi ʻana o nā ʻano.
Ma BMKGENE, hāʻawi mākou i ʻelua ala no ka hoʻokō ʻana i nā haʻawina genetics evolutionary ma nā heluna nui: hoʻohana i ka holoʻokoʻa-genome sequencing (WGS) a i ʻole ke koho ʻana i kahi ʻano hoʻohālikelike genome sequencing hōʻemi, ka Specific-Locus Amplified Fragment (SLAF) i kūkulu ʻia i loko o ka hale. ʻOiai ua kūpono ka WGS i nā genome liʻiliʻi, ua puka mai ʻo SLAF ma ke ʻano he kumu kūʻai kūpono no ke aʻo ʻana i nā heluna nui me nā genome lōʻihi, e hōʻemi pono ana i nā kumukūʻai sequencing.
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Hoʻohālikelike Genomics
Hoʻopili ʻia nā genomic hoʻohālikelike i ka nānā ʻana a me ka hoʻohālikelike ʻana i nā kaʻina genome holoʻokoʻa a me nā hale i waena o nā ʻano ʻano like ʻole. Ke ʻimi nei kēia kahua e wehe i ka ulu ʻana o nā ʻano ʻano, decode gene functions, a me ka wehewehe ʻana i nā mīkini hoʻoponopono genetic ma o ka ʻike ʻana i nā ʻano hoʻonohonoho mālama ʻia a ʻokoʻa paha a me nā mea ma waena o nā mea ola like ʻole. Hoʻopili ʻia kahi haʻawina genomics hoʻohālikelike piha i nā kānana e like me nā ʻohana gene, ka hoʻomohala ʻana i nā hanana, nā hanana duplication-genome holoʻokoʻa, a me ka hopena o nā kaomi koho.
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Hui Genome Hoʻokumu Hi-C
He ʻano hana ʻo Hi-C no ka hopu ʻana i ka hoʻonohonoho chromosome ma o ka hoʻohui ʻana i nā pilina pili pili kokoke a me ke kaʻina hana kiʻekiʻe. ʻO ka ikaika o kēia mau pilina i manaʻo ʻia ua pili maikaʻi ʻia me ka mamao kino ma nā chromosomes. No laila, hoʻohana ʻia ka ʻikepili Hi-C no ke alakaʻi ʻana i ka hui ʻana, ka hoʻonohonoho ʻana, a me ka hoʻonohonoho ʻana o nā kaʻina i hui ʻia i loko o kahi kikoʻī genome a hoʻopaʻa i kēlā mau mea ma kekahi helu o nā chromosomes. Hāʻawi kēia ʻenehana i kahi hui genome pae chromosome me ka loaʻa ʻole o kahi palapala ʻāina hoʻokumu kanaka. Pono kēlā me kēia genome i kahi Hi-C.
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Mea kanu/holoholona De Novo Genome Sequencing
De Novopili ka sequencing i ke kūkulu ʻana i ka genome holoʻokoʻa o kahi ʻano me ka hoʻohana ʻana i nā ʻenehana sequencing me ka loaʻa ʻole o kahi genome kuhikuhi. ʻO ka hoʻomaka ʻana a me ka hoʻolaha nui ʻana o ke kaʻina o nā hanauna ʻekolu, e hōʻike ana i nā heluhelu lōʻihi, ua hoʻonui nui ʻia ka hui genome ma o ka hoʻonui ʻana i ka overlap ma waena o nā heluhelu. He mea pili loa kēia hoʻonui i ka wā e pili ana i nā genomes paʻakikī, e like me nā mea e hōʻike ana i ka heterozygosity kiʻekiʻe, kahi ratio kiʻekiʻe o nā ʻāpana repetitive, polyploids, a me nā ʻāpana me nā mea repetitive, nā mea GC ʻano ʻole, a i ʻole ka paʻakikī kiʻekiʻe i hui maikaʻi ʻole ʻia me ka hoʻohana ʻana i ke kaʻina heluhelu pōkole. hoʻokahi wale nō.
Hāʻawi kā mākou hoʻonā hoʻokahi i nā lawelawe sequencing i hoʻohui ʻia a me ka loiloi bioinformatic e hāʻawi i kahi genome de novo assembled kiʻekiʻe. Hāʻawi kahi loiloi genome mua me Illumina i nā manaʻo o ka nui a me ka paʻakikī o ka genome, a ua hoʻohana ʻia kēia ʻike e alakaʻi i ka pae aʻe o ka heluhelu lōʻihi ʻana me PacBio HiFi, a ukali ʻia ede novohui o contigs. ʻO ka hoʻohana hope ʻana o ka hui HiC hiki ke hoʻopaʻa i nā contigs i ka genome, e loaʻa ai kahi hui pae chromosome. ʻO ka hope, ua hōʻike ʻia ka genome e ka wānana gene a me ka hoʻonohonoho ʻana i nā genes i hōʻike ʻia, e hoʻohana ana i nā transcriptome me nā heluhelu pōkole a lōʻihi.
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ʻO ke Kaʻina Exome Ke kanaka holoʻokoʻa
Ua ʻike nui ʻia ʻo Human Whole exome sequencing (hWES) ma ke ʻano he kumu kūʻai kūpono a ikaika hoʻi no ka ʻike ʻana i nā mutation kumu o ka maʻi. ʻOiai he 1.7% wale nō o ka genome holoʻokoʻa, he hana koʻikoʻi nā exons ma o ka hōʻike pololei ʻana i ka ʻike o nā hana protein holoʻokoʻa. ʻO ka mea nui, i ka genome kanaka, ʻoi aku ma mua o 85% o nā mutations e pili ana i nā maʻi i hōʻike ʻia i loko o nā ʻāpana coding protein. Hāʻawi ʻo BMKGENE i kahi lawelawe holoʻokoʻa exome kanaka holoʻokoʻa a maʻalahi me ʻelua mau hoʻolālā hopu exon ʻokoʻa i loaʻa e hoʻokō i nā pahuhopu noiʻi like ʻole.
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ʻO ke kaʻina o nā ʻāpana ʻāpana kikoʻī i hoʻonui ʻia (SLAF-Seq)
ʻO ka genotyping kiʻekiʻe, ʻoi aku ka nui o ka heluna kanaka, he hana nui ia i nā noiʻi hui genetic a hāʻawi i kahi kumu genetic no ka ʻike ʻana i nā ʻano hana, ka loiloi evolutionary, a me nā mea ʻē aʻe.Hoʻemi ʻia ka hōʻike Genome Sequencing (RRGS)Hoʻohana pinepine ʻia i loko o kēia mau haʻawina e hōʻemi i ke kumukūʻai sequencing no kēlā me kēia laʻana me ka mālama ʻana i ka pono kūpono i ka ʻike ʻana i nā māka genetic. Hoʻokō ʻo RRGS i kēia ma ka ʻeli ʻana i ka DNA me nā enzyme kaohi ʻana a me ka nānā ʻana i kahi ʻāpana ʻāpana kikoʻī, a laila e hoʻokaʻawale i kahi hapa o ka genome. Ma waena o nā ʻano RRGS like ʻole, Specific-Locus Amplified Fragment Sequencing (SLAF) kahi hana maʻamau a kiʻekiʻe. ʻO kēia ʻano hana, hoʻomohala kūʻokoʻa e BMKGene, hoʻopaʻa i ka enzyme palena i hoʻonohonoho ʻia no kēlā me kēia papahana. ʻO kēia ka mea e hōʻoia i ka hoʻokumu ʻana i kahi helu nui o nā hōʻailona SLAF (400-500 bps mau ʻāpana o ka genome i hoʻokaʻawale ʻia) i hoʻohele like ʻia ma waena o ka genome me ka pale ʻana i nā ʻāpana hana hou, no laila e hōʻoiaʻiʻo i ka loaʻa ʻana o ka hōʻailona genetic maikaʻi loa.
