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ʻIkepili ʻAhahui Genome-wide
ʻO ka Genome-wide association study (GWAS) ka manaʻo e ʻike i nā ʻano ʻano genetic (genotype) e pili ana i nā ʻano kikoʻī (phenotype).Ke noiʻi nei ka haʻawina GWAS i nā hōʻailona genetic e hele i ka genome holoʻokoʻa o ka heluna nui o nā kānaka a wānana i nā hui genotype-phenotype ma o ka nānā ʻana helu helu ma ka pae heluna kanaka.Ua hoʻohana nui ʻia i ka noiʻi ʻana i nā maʻi kanaka a me ka hana ʻana i nā ʻano gene ma nā ʻano paʻakikī o nā holoholona a mea kanu paha.
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Mea kanu/holoholona holoʻokoʻa Genome Sequencing
ʻO ka hoʻonohonoho hou ʻana o ka genome holoʻokoʻa, ʻike ʻia ʻo WGS, hiki ke hōʻike ʻia nā hoʻololi maʻamau a me nā ʻano like ʻole ma ka genome holoʻokoʻa me Single Nucleotide Polymorphism (SNP), Insertion Deletion (InDel), Structure variation (SV), a me Copy Number Variation (CNV). ).Hoʻokumu nā SV i kahi hapa nui o ka waihona hoʻololi ma mua o nā SNP a ʻoi aku ka nui o ka hopena i ka genome, he hopena koʻikoʻi i nā mea ola.ʻO ka heluhelu lōʻihi e hiki ai ke ʻike pololei i nā ʻāpana nui a me nā ʻano paʻakikī no ka mea ʻoi aku ka maʻalahi o ka heluhelu lōʻihi i ka hele ʻana o ka chromosomal ma luna o nā wahi paʻakikī e like me ka tandem repeats, GC/AT-rich regions, a me hyper-variable regions.
Papahana: Illumina, PacBio, Nanopore
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Nā Genetics Evolutionary
ʻO ka Evolutionary genetics kahi lawelawe hoʻonohonoho paʻa i hoʻolālā ʻia no ka hāʻawi ʻana i ka wehewehe piha ʻana i ka ʻike evolutionary o nā mea i hāʻawi ʻia e pili ana i nā ʻano like ʻole, me nā SNP, InDels, SV a me CNV.Hāʻawi ia i nā kānana kumu a pau e pono ai no ka wehewehe ʻana i nā loli evolutionary a me nā hiʻohiʻona genetic o nā heluna kanaka, e like me ke ʻano o ka heluna kanaka, ka ʻokoʻa ʻokoʻa, ka pilina phylogeny, a pēlā aku.
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Hoʻohālikelike Genomics
ʻO ka hoʻohālikelike ʻana i nā genomic ʻo ia hoʻi ka hoʻohālikelike ʻana i nā kaʻina genome piha a me nā hale o nā ʻano ʻano like ʻole.Ke manaʻo nei kēia aʻo ʻana i ka hōʻike ʻana i ka ulu ʻana o nā ʻano mea, ka hana gene, ka ʻōnaehana hoʻoponopono gene ma ka pae genome ma ka ʻike ʻana i nā ʻano hana a me nā mea i mālama ʻia a hoʻokaʻawale ʻia ma nā ʻano like ʻole.ʻO ka haʻawina genomics hoʻohālikelike maʻamau e pili ana i nā loiloi i ka ʻohana gene, ka hoʻomohala ʻana i ka evolutionary, ka duplication genome holoʻokoʻa, ke kaomi koho, etc.
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ʻO ka Genome Assembly ma muli o 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, hiki i ka ʻikepili Hi-C ke alakaʻi 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 ka palapala ʻāina hoʻokumu kanaka.Pono kēlā me kēia genome i kahi Hi-C.
Papahana: Illumina NovaSeq Platform / DNBSEQ
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Mea kanu/holoholona De Novo Genome Sequencing
De NovoʻO ke kaʻina hana e pili ana i ke kūkulu ʻana i ka genome holoʻokoʻa o kekahi ʻano me ka hoʻohana ʻana i nā ʻenehana sequencing, e laʻa me PacBio, Nanopore, NGS, etc., me ka loaʻa ʻole o kahi genome kuhikuhi.ʻO ka hoʻomaikaʻi maikaʻi ʻana i ka lōʻihi heluhelu o nā ʻenehana sequencing ʻekolu ua lawe mai i nā manawa hou i ka hui ʻana i nā genomes paʻakikī, e like me nā mea me ka heterozygosity kiʻekiʻe, ka ratio kiʻekiʻe o nā ʻāpana repetitive, polyploids, etc. ka hoʻoholo ʻana i nā mea hana hou, nā ʻāpana me nā mea ʻokoʻa GC a me nā wahi paʻakikī ʻē aʻe.
Papahana: PacBio Sequel II / Nanopore PromethION P48/ Illumina NovaSeq Platform
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ʻO ke Kaʻina Exome Ke kanaka holoʻokoʻa
Manaʻo ʻia ʻo Whole exome sequencing (WES) ma ke ʻano he kumu hoʻolālā hoʻokele waiwai no ka ʻike ʻana i nā mutation kumu maʻi.ʻOiai ʻo nā exons wale nō e lawe ma kahi o 1.7% o ka genome holoʻokoʻa, hōʻike pololei ia i ka ʻike o nā hana protein holoʻokoʻa.I loko o ka genome kanaka, ua hōʻike ʻia ʻoi aku ma mua o 85% o nā hoʻololi e pili ana i nā maʻi i loaʻa i ka ʻāina coding protein.
Hāʻawi ʻo BMKGENE i nā lawelawe hoʻokaʻina exome holoʻokoʻa kanaka piha a maʻalahi me nā hoʻolālā hopu exon like ʻole i loaʻa e hoʻokō i nā pahuhopu noiʻi like ʻole.
Papahana: Illumina NovaSeq Platform
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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 koʻikoʻi ia i ka noiʻi ʻana i ka hui genetic, e hāʻawi ana i ke kumu genetic no ka ʻike ʻana i nā ʻano hana, ka loiloi evolutionary, etc. ) ua hoʻokomo ʻia e hōʻemi i ke kumukūʻai kaʻina no kēlā me kēia laʻana, ʻoiai e mālama pono i ka hana kūpono ma ka ʻike ʻana i ka hōʻailona genetic.Loaʻa ʻia kēia ma ka unuhi ʻana i ka ʻāpana palena i loko o ka laulā nui i hāʻawi ʻia, ka mea i kapa ʻia ka hale waihona hōʻike hōʻemi (RRL).ʻO ka kikoʻī-locus amplified fragment sequencing (SLAF-Seq) kahi hoʻolālā i hoʻomohala ponoʻī no ka SNP genotyping me ka ʻole a i ʻole ka genome kuhikuhi.
Papahana: Illumina NovaSeq Platform
