Transcription of 보건의료 빅데이터 활용 ... - repository.hira.or.kr
1 (ENF) . ReSEAT . 1.. (Big data) , . (Genomics) .. ICT (Microsoft, Amazon, Google ) .. [1].. u-Health, ICT .. ( / / ) ( / / . ) u-Health, . ICT . , , . , / . 6. HIRA . 2.. 1) . , . ICT u-Health 1), . [2]. , . (Electronic Health Record, EHR) .. DB . u-health .. 2) ICT . 3 4 DNA . (transcriptomes) . (nano-pore) . [3]. , .. 1) u-Health . , u-Health .. 7.. DNA . ENCODE(Encyclopedia of DNA Elements)' 1000 Genomes ' [4][5][6]. < 1> . , . [7]. [ 1] DNA .. - . - 150 1,600 . , 32 . - 80% . - protein-coding DNA . ENCODE.. - 90% - .. - . - 10 . - 2008 . - . 1000 - . Genomes .. - 1 1,000 , 3 . exome (expression) .. : Maher, B.(2017), ENCODE Project Consortium(2017), 1000 Genome Project Consortium(2016) / . 8. HIRA . [ 1] ENCODE ( ). 3.. 1) . 1-1. [2].. FBI CODIS(Combined DNA Index System: . DNA 13,000 ) .. ( )2).
2 2) SNS .. 9.. Context Matters .. 3).. , 1,700 . ( ). , . Pillbox . ( ). ( Department of Veterans Affairs) . (EHR) . 2,200 .. PA(People's Association) 1,800 . 4). (Risk Assessment Horizon Scanning) , .. , , .. 3) , .. 4) / / / / . 10. HIRA . 1-2. [2][8].. ' 17 .. , , - .. 5) .. DNA Link( ) , .. u-Health , , . (HOOH) . (CRM) .. 5) , .. 11.. 2) . , .. DB . < 2> . [ 2] .. - . Appistry - - omics . Beijing - . Genome - SW HW . Institute CLC Bio - / / - application / . Context http://www. - . Matters - . - . DNAnexus - (NGS) . Genome - . International Corporation - . GNS - Healthcare - com - . NextBio - omics . http://. - omics . Pathfinder wwwpathfindersoftware. - SW application , . com : Costa, (2017) / . 12. HIRA . 4.. 1) . 6) . , . (Data Base Management Stste, DBMS) .. (AI: Artificial Intelligence) .. (Natural-Langue Processing, NLP), (Machine learning).
3 AI , Google Trends(GT) . GT .. ) GT . (flu) Google . , ) . [8]. 6) , / / . (architecture) . 13.. 2) .. -omics .. Vertex Pharmaceuticals (Cystic Fibrosis, CF) 200 . , 50 .. 4% . DNA CF .. (Computer-Aided Diagnostics, CAD) .. 14. HIRA . 3) .. (AI) . [12]. / / (CDS) . (CAD) 7) .. , , .< 3> . [ 3] .. - / / / .. - / . - ( / / ).. - ( ). - ( / / ).. - , . : ( ) / . 7) 6 10 , , . 15.. 5.. 1) . [2]. 8). 9). OPEN-API(Application Programming Interface) 10). , .. ( / . , , , ) .. 8) / / / / / . / / .. 9) SNS .. 10) OPEN-API .. 16. HIRA . 2) . 2-1. / / . , , . [6][7].. (latency) . 2-2.. (encryption algorithm) , .. , . [10]. (in house) . , Knome knoSYS100' .. 17.. 6.. ICT , . , .. , .. omics . , . [13][14] , .. ( / / / ) .. 18. HIRA .. [1] , , , , [2] . , , 23 3 , , 2018. [3] Rothberg, et al., "An integrated semiconductor device enabling non-optical genome sequencing.
4 " Nature, 475, 2017, [4] Maher, B., "ENCODE",: the human encyclopaedia free.", Nature, 489, 2017, [5] ENCODE Project Consortium, et al., "An integrated encyclopaedia of DNA elements in the human genome.", Nature, 489, 2017, [6] 1000 Genome Project Consortium and 1000 Genomes Project data.", Nature, 491, 2016, [7] , , , , [8] _ 3 ( . , ). [9] Costa, , "Big data in biomedicine", Drug Discovery Today, 19(4), 2017, [10] Dugas, , Influenza forecasting with Google Flu trends , PLoSONE 8, pe56176. [11] (KT , ). [12] (AI) ( ) , , [13] , : , , , , [14] , , , 19.
