{"id":6574,"date":"2020-06-05T13:48:09","date_gmt":"2020-06-05T04:48:09","guid":{"rendered":"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/?p=6574"},"modified":"2022-04-01T09:50:54","modified_gmt":"2022-04-01T00:50:54","slug":"basic_ngs_gsd_ts_2","status":"publish","type":"post","link":"https:\/\/www.thermofisher.com\/blog\/learning-at-the-bench\/basic_ngs_gsd_ts_2\/","title":{"rendered":"\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u89e3\u6790\uff1a\u30ad\u30fc\u30ef\u30fc\u30c9\u89e3\u8aac"},"content":{"rendered":"<p>\u7686\u3055\u3093\u306e\u307b\u3068\u3093\u3069\u306fDNA\u3084RNA\u3068\u3044\u3063\u305f\u8a00\u8449\u3092\u3054\u5b58\u3058\u3060\u3068\u601d\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09\u306e\u4e16\u754c\u306b\u306f\u3001WES\u3001target-seq\u3001RNA-Seq\u3001BAM\u3001FASTQ\u306a\u3069\u3001\u72ec\u81ea\u306e\u30ad\u30fc\u30ef\u30fc\u30c9\u304c\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002\u305d\u3053\u3067\u4eca\u56de\u306f\u3001NGS\u306e\u30ad\u30fc\u30ef\u30fc\u30c9\u306b\u3064\u3044\u3066\u89e3\u8aac\u3044\u305f\u3057\u307e\u3059\u3002<\/p>\n<p>\u25bc\u3053\u3093\u306a\u65b9\u306b\u304a\u3059\u3059\u3081\u3067\u3059\uff01<br \/>\n\u30fb\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u89e3\u6790\u672a\u7d4c\u9a13\u306e\u65b9<br \/>\n\u30fb\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u89e3\u6790\u3092\u59cb\u3081\u305f\u3070\u304b\u308a\u306e\u65b9<\/p>\n<p><iframe loading=\"lazy\" title=\"Next Generation Sequencing Acronyms and Terms - Seq It Out #15\" width=\"760\" height=\"428\" src=\"https:\/\/www.youtube.com\/embed\/wNzFMV0Zhqw?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture\" allowfullscreen><\/iframe><\/p>\n<p>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u306b\u3064\u3044\u3066\u691c\u8a0e\u3092\u59cb\u3081\u308b\u3068\u304dWES\u3001WGS\u3001target-seq\u306e\u3069\u306e\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u3092\u59cb\u3081\u308b\u306e\u304b\u3068\u805e\u304b\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002WES\uff08Whole Exome Sequencing\uff09\u306f<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/dna-sequencing\/exome-sequencing\/exome-sequencing-ion-torrent-next-generation-sequencing.html?CID=Csd_cdx_sbu_r04_jp_cp1347_pjt5611_csd00000_0so_blg_op_lgn_kt_s00_ngs6_Social_LAB\" target=\"_blank\" rel=\"noopener noreferrer\">\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/a>\u3001WGS\uff08Whole Genome Sequencing\uff09\u306f\u5168\u30b2\u30ce\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3001target-seq\uff08Targeted Sequencing\uff09\u306f<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/dna-sequencing\/targeted-sequencing\/targeted-sequencing-ion-torrent-next-generation-sequencing.html?CID=Csd_cdx_sbu_r04_jp_cp1347_pjt5611_csd00000_0so_blg_op_lgn_kt_s00_ngs6_Social_LAB\" target=\"_blank\" rel=\"noopener noreferrer\">\u30bf\u30fc\u30b2\u30c3\u30c8\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0<\/a>\u306e\u3053\u3068\u3067\u3059\u3002\u3055\u3089\u306b<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/rna-sequencing\/targeted-rna-sequencing-ion-torrent-next-generation-sequencing.html?CID=Csd_cdx_sbu_r04_jp_cp1347_pjt5611_csd00000_0so_blg_op_lgn_kt_s00_ngs6_Social_LAB\" target=\"_blank\" rel=\"noopener noreferrer\">RNA-Seq<\/a>\uff08RNA\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff09\u3001ChIP\uff08chromatin immunoprecipitation\uff09-Seq\uff08\u30af\u30ed\u30de\u30c1\u30f3\u514d\u75ab\u6c88\u964d\u6cd5\u3068\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u6280\u8853\uff09\u306e\u3088\u3046\u306a\u4ed6\u306e\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u624b\u6cd5\u306b\u95a2\u3059\u308b\u7528\u8a9e\u3082\u305f\u304f\u3055\u3093\u3042\u308a\u307e\u3059\u3002<\/p>\n<p>\u5909\u7570\u89e3\u6790\u306b\u95a2\u9023\u3059\u308b\u982d\u5b57\u8a9e\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u8ab0\u304b\u304c\u3042\u306a\u305f\u306b\u300c\u30b5\u30f3\u30d7\u30eb\u306eSNP\u3001SNV\u3001Indel\u3001CNV\u306e\u8fd1\u304f\u306eHP\u306b\u3064\u3044\u3066\u61f8\u5ff5\u3057\u3066\u3044\u307e\u3059\u304b\uff1f\u300d\u3068\u5c0b\u306d\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u30b7\u30fc\u30b1\u30f3\u30b9\u3092\u5b9f\u884c\u3057\u305f\u5f8c\u3001\u305d\u306e\u7d50\u679c\u306b\u3064\u3044\u3066\u300cAQ\u306f\uff1fMRL\u306f\u3069\u3046\u3060\u3063\u305f\uff1f\u300d\u3068\u805e\u304b\u308c\u305f\u308a\u3001\u307e\u305f\u306fIon Torrent\u2122 \u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u306e\u5834\u5408\u3001ISP\u304c\u3069\u306e\u304f\u3089\u3044\u5f97\u3089\u308c\u305f\u304b\u5c0b\u306d\u3089\u308c\u305f\u308a\u3059\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/p>\n<p>SNP\uff08Single Nucleotide Polymorphism\uff09\u306f\u4e00\u5869\u57fa\u591a\u578b\u3001SNV\uff08Single Nucleotide Variants\uff09\u306f\u4e00\u5869\u57fa\u5909\u7570\u3001Indel\uff08Insertion\uff0fDeletion\uff09\u306f\u633f\u5165\u30fb\u6b20\u5931\u5909\u7570\u3001CNV\uff08Copy Number Variation\uff09\u306f\u30b3\u30d4\u30fc\u6570\u5909\u7570\u3092\u610f\u5473\u3057\u307e\u3059\u3002HP\uff08HomoPolymer\uff09\u306fAAAA\u3084TTTTT\u306a\u3069\u3001\u540c\u4e00\u306e\u5869\u57fa\u304c\u4e26\u3076\u7b87\u6240\u306e\u3053\u3068\u3067\u3059\u3002AQ\uff08Alignment Quality\uff09\u306f\u3001\u30b5\u30f3\u30d7\u30eb\u914d\u5217\u304c\u53c2\u7167\u914d\u5217\u3068\u3069\u308c\u3060\u3051\u3046\u307e\u304f\u6574\u5217\u3057\u305f\u304b\u3092\u8a55\u4fa1\u3059\u308b\u5024\u3067\u3059\u3002MRL\uff08Mean Read Length\uff09\u306f\u5e73\u5747\u8aad\u307f\u53d6\u308a\u9577\u3067\u3059\u3002NGS\u3067\u306f\u3001\u4f55\u767e\u4e07\u3082\u306e\u30ea\u30fc\u30c9\uff08\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3067\u5f97\u3089\u308c\u308b1\u672c1\u672c\u306e\u914d\u5217\uff09\u304c\u3046\u307f\u3060\u3055\u308c\u3001\u30ea\u30fc\u30c9\u306e\u9577\u3055\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u30ea\u30fc\u30c9\u306e\u5e73\u5747\u306e\u9577\u3055\u3092\u8a08\u7b97\u3057\u307e\u3059\u3002<\/p>\n<p>\u305d\u3057\u3066\u3001Ion Torrent\u30e6\u30fc\u30b6\u30fc\u306fISP\uff08Ion Sphere Particles\uff09\u306b\u3082\u95a2\u5fc3\u304c\u3042\u308a\u307e\u3059\u3002ISP\u306f\u30b7\u30fc\u30b1\u30f3\u30b9\u53cd\u5fdc\u306e\u969b\u306bDNA\u65ad\u7247\u3092\u7d50\u5408\u3055\u305b\u308b\u5c0f\u3055\u306a\u30d3\u30fc\u30ba\u3067\u3059\u3002\u5f97\u3089\u308c\u305fISP\u304c\u591a\u3044\u307b\u3069\u3001\u30b7\u30fc\u30b1\u30f3\u30b9\u51e6\u7406\u3067\u304d\u308b\u8aad\u307f\u53d6\u308a\u306e\u6570\u304c\u591a\u304f\u306a\u308a\u307e\u3059\u3002<\/p>\n<p>\u3053\u308c\u3089\u306e\u7528\u8a9e\u306b\u6df7\u4e71\u3057\u305d\u3046\u306a\u6642\u306f\u3001\u8eab\u8fd1\u306b\u3044\u308b\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30b7\u30e3\u30f3\u306b\u3053\u308c\u3089\u3092\u3069\u3046\u4f7f\u7528\u3059\u308b\u306e\u304b\u805e\u3044\u3066\u307f\u307e\u3057\u3087\u3046\u3002\u5f7c\u3089\u3068\u8a71\u3092\u3059\u308b\u3068\u304d\u3001\u3042\u306a\u305f\u306fBAM\u304buBAM\u30d5\u30a1\u30a4\u30eb\u3092\u6301\u3063\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u3001\u307e\u305f\u306fFASTQ\u30d5\u30a1\u30a4\u30eb\u3092\u53d6\u5f97\u3057\u305f\u304b\u3068\u805e\u304b\u308c\u308b\u3067\u3057\u3087\u3046\u3002\u6b21\u306b\u5f7c\u3089\u306f\u3001FASTA\u304a\u3088\u3073VCF\u30d5\u30a1\u30a4\u30eb\u304c\u5fc5\u8981\u304b\u3069\u3046\u304b\u3092\u77e5\u308a\u305f\u3044\u3068\u8003\u3048\u308b\u3067\u3057\u3087\u3046\u3002<\/p>\n<p>BAM\u30d5\u30a1\u30a4\u30eb\u306f\u3001\u30ea\u30fc\u30c9\u3092\u53c2\u7167\u914d\u5217\u306b\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\uff0f\u30de\u30c3\u30d4\u30f3\u30b0\u3092\u884c\u3063\u305f\u60c5\u5831\u3092\u542b\u3080\u3001\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u304c\u76f4\u63a5\u7684\u306b\u51e6\u7406\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u30d0\u30a4\u30ca\u30ea\u5f62\u5f0f\u306e\u30d5\u30a1\u30a4\u30eb\u3067\u3059\u3002uBAM\u306f\u3001\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\uff0f\u30de\u30c3\u30d4\u30f3\u30b0\u3092\u884c\u3063\u3066\u3044\u306a\u3044\u30ea\u30fc\u30c9\u306e\u60c5\u5831\u3092\u542b\u3080\u30d0\u30a4\u30ca\u30ea\u30d5\u30a1\u30a4\u30eb\u3067\u3059\u3002FASTA\u30d5\u30a1\u30a4\u30eb\u306f\u914d\u5217\u60c5\u5831\u3060\u3051\u3092\u542b\u3080\u30d5\u30a1\u30a4\u30eb\u3067\u3001FASTQ\u30d5\u30a1\u30a4\u30eb\u306f\u30af\u30aa\u30ea\u30c6\u30a3\u30b9\u30b3\u30a2\u3092\u542b\u3080\u5404\u30ea\u30fc\u30c9\u306e\u30ea\u30b9\u30c8\u3067\u3059\u3002\u6700\u5f8c\u306b\u3001VCF\uff08Variant Calling Format\uff09\u30d5\u30a1\u30a4\u30eb\u306f\u3001\u5909\u7570\u3068\u305d\u306e\u5834\u6240\u306e\u60c5\u5831\u3092\u542b\u307f\u307e\u3059\u3002<\/p>\n<p>\u591a\u304f\u306e\u30bd\u30d5\u30c8\u30a6\u30a7\u30a2\u3067\u306f\u30a2\u30e9\u30a4\u30f3\u30e1\u30f3\u30c8\uff0f\u30de\u30c3\u30d4\u30f3\u30b0\u3092\u884c\u3063\u3066\u3044\u306a\u3044\u30ea\u30fc\u30c9\u306e\u30d5\u30a1\u30a4\u30eb\u3068\u3057\u3066FASTQ\u30d5\u30a1\u30a4\u30eb\u3092\u51fa\u529b\u3057\u307e\u3059\u304c\u3001IonTorrent\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u306fuBAM\u30d5\u30a1\u30a4\u30eb\u3092\u51fa\u529b\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u3001IonTorrent\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u7279\u6709\u306e\u30d5\u30ed\u30fc\u30b9\u30da\u30fc\u30b9\u60c5\u5831\u3092\u542b\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u304b\u3089\u3067\u3059\u3002\u30d5\u30ed\u30fc\u30b9\u30da\u30fc\u30b9\u60c5\u5831\u306f\u5909\u7570\u3092\u6b63\u78ba\u306b\u691c\u51fa\u3059\u308b\u306e\u306b\u91cd\u8981\u3067\u3059\u3002FASTQ\u30d5\u30a1\u30a4\u30eb\u3092IonTorrent\u30b7\u30fc\u30b1\u30f3\u30b5\u30fc\u304b\u3089\u51fa\u529b\u3059\u308b\u306b\u306f\u3001\u30d7\u30e9\u30b0\u30a4\u30f3\u3068\u3044\u3046\u6a5f\u80fd\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002<\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-full wp-image-6918\" src=\"http:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a.jpg\" alt=\"\" width=\"1282\" height=\"850\" srcset=\"https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a.jpg 1282w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a-300x199.jpg 300w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a-1024x679.jpg 1024w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a-768x509.jpg 768w, https:\/\/admin.acceleratingscience.com\/learning-at-the-bench\/wp-content\/uploads\/sites\/13\/2020\/06\/table1a-96x65.jpg 96w\" sizes=\"auto, (max-width: 1282px) 100vw, 1282px\" \/><\/p>\n<h2>\u307e\u3068\u3081<\/h2>\n<p>\u30fb\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\u3092\u7528\u3044\u305f\u591a\u69d8\u306a\u30a2\u30d7\u30ea\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u95a2\u3059\u308b\u30ad\u30fc\u30ef\u30fc\u30c9<br \/>\n\u30fb\u5909\u7570\u89e3\u6790\u3092\u4f8b\u306b\u3001\u89e3\u6790\u7d50\u679c\u3068\u305d\u306e\u8a55\u4fa1\u306b\u95a2\u3059\u308b\u30ad\u30fc\u30ef\u30fc\u30c9<br \/>\n\u30fb\u30d5\u30a1\u30a4\u30eb\u5f62\u5f0f\u306b\u95a2\u3059\u308b\u30ad\u30fc\u30ef\u30fc\u30c9<br \/>\n\u3092\u3054\u7d39\u4ecb\u3057\u307e\u3057\u305f\u3002<\/p>\n<p>&nbsp;<\/p>\n<p>NGS\u30c7\u30fc\u30bf\u89e3\u6790\u3067\u304a\u60a9\u307f\u306e\u65b9\u3001\u3088\u308a\u8a73\u3057\u3044\u89e3\u6790\u3092\u3054\u8981\u671b\u306e\u65b9\u306f\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b9\uff08NGS\uff09\u30c7\u30fc\u30bf\u89e3\u6790\u652f\u63f4\u30b5\u30fc\u30d3\u30b9\u3092\u691c\u8a0e\u3057\u3066\u307f\u3066\u304f\u3060\u3055\u3044\u3002<br \/>\n<a href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/products-and-services\/services\/technical-services\/bioinformatics-services.html?CID=Csd_cdx_sbu_r04_jp_cp1347_pjt5611_csd00000_0so_blg_op_lgn_kt_s00_ngs6_Social_LAB\" target=\"_blank\" rel=\"noopener noreferrer\">https:\/\/www.thermofisher.com\/jp\/ja\/home\/products-and-services\/services\/technical-services\/bioinformatics-services.html<\/a><\/p>\n<h2><span id=\"i-2\">\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u5165\u9580<\/span><\/h2>\n<p class=\"selectionShareable\">Ion Torrent\u6b21\u4e16\u4ee3\u30b7\u30fc\u30b1\u30f3\u30b5\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u77e5\u308a\u305f\u3044\u65b9\u306f\u3001\u3053\u3061\u3089\u3082\u3054\u53c2\u7167\u304f\u3060\u3055\u3044\u3002<\/p>\n<p><a class=\"btn btn-red\" href=\"https:\/\/www.thermofisher.com\/jp\/ja\/home\/life-science\/sequencing\/next-generation-sequencing\/ngs-basics.html?CID=Csd_cdx_sbu_r04_jp_cp1347_pjt5611_csd00000_0so_blg_op_lgn_kt_s00_ngs6_Social_LAB\" 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