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加拿大Genizon Biosciences?
位于加拿大蒙特利爾省的Genizon BioSciences生物科學(xué)公司利用5萬個(gè)被試建立了魁北克法裔加拿大人的群系，大大擴(kuò)大其擁有的DNA的樣品量，他們同時(shí)還對25種疾病的遺傳基礎(chǔ)進(jìn)行研究。這家公司完成了10種疾病的全基因組掃描，其中包括克羅恩病、哮喘、阿爾茨海默氏病、和注意力缺失/過動(dòng)癥等。
Genizon生物科學(xué)公司的IT構(gòu)架整合了一個(gè)FDA兼容的LabVantage Sapphire LIMS構(gòu)架、一個(gè)包含電子數(shù)據(jù)捕捉和信號兼容的eResearch技術(shù)臨床數(shù)據(jù)庫管理系統(tǒng)、一個(gè)32-千兆的網(wǎng)絡(luò)存儲(chǔ)、和一個(gè)288-CPU的計(jì)算網(wǎng)格，進(jìn)行他們需要的數(shù)據(jù)分析。Genizon生物科學(xué)公司的軟件構(gòu)架的領(lǐng)航者Borivoj （Bora） Stojkovic說，他們公司以積極的策略來應(yīng)對無限膨脹的SNP密度和GWA樣品的規(guī)模。他們模擬大規(guī)模數(shù)據(jù)，測試并開發(fā)新的方法預(yù)先突破未來可能出現(xiàn)的瓶頸。Stojkovic說，由于在數(shù)據(jù)壓縮方面有經(jīng)驗(yàn)，“我們把壓縮后的數(shù)據(jù)加載到內(nèi)存。這樣的話，既可以使用全部的數(shù)據(jù)，又不必占滿整個(gè)內(nèi)存空間。同時(shí)，我們把內(nèi)存空間進(jìn)行分割，把小的數(shù)據(jù)集分配其中。”通過把數(shù)據(jù)集分配到更小的塊中，利用多個(gè)CPU處理不同的塊。
Stojkovic 說，Genizon生物科學(xué)公司的最新壓縮策略能夠把公司的文件存儲(chǔ)覆蓋區(qū)降低到原來的二十分之一。對于有不同計(jì)算強(qiáng)度需求的分析，他們能夠做到在流程涉及到的網(wǎng)格和機(jī)群中分配數(shù)據(jù)庫。公司的內(nèi)部網(wǎng)格能夠在機(jī)群的數(shù)千個(gè)CPU上自動(dòng)分配數(shù)據(jù)。為了管理不同類型的數(shù)據(jù)，他們把內(nèi)部數(shù)據(jù)格式標(biāo)準(zhǔn)化，通過轉(zhuǎn)換過濾器把外部進(jìn)來的數(shù)據(jù)進(jìn)行過濾，實(shí)現(xiàn)標(biāo)準(zhǔn)化轉(zhuǎn)換。
然而，Stojkovic強(qiáng)調(diào)說，雖然分布式或者網(wǎng)格計(jì)算的各種方法確實(shí)很有效，但是現(xiàn)在最重要的困難是如何把計(jì)算的思想過程和算法流程實(shí)現(xiàn)流水線化并進(jìn)一步地優(yōu)化，以提高整個(gè)系統(tǒng)的整合程度和關(guān)聯(lián)度，并且使語言和流程更加緊湊、精練。
Genizon Biosciences Inc. discovers genes and biomarkers in common diseases using genome wide association studies (GWAS), leveraging its proven and proprietary technology platform and access to patients from the Quebec Founder Population.
Genizon has one of the largest GWAS programs worldwide, addressing many common diseases and traits. Several of these have been successfully completed, generating comprehensive maps of interacting genes, biomarkers and biological disease pathways (known as GeneMaps), providing strong validation of the power of the Company’s discovery platform.

Genizon has out-licensed some of the therapeutic and diagnostic rights to GeneMaps for Crohn’s disease (to Genentech) and attention deficit hyperactivity disorder, endometriosis and Alzheimer’s disease (disease-state diagnostic rights to Pfizer). GeneMaps have also been generated from GWAS in schizophrenia, psoriasis and longevity. GWAS are in progress for rheumatoid arthritis, Alzheimer’s disease, and coronary heart disease and its precursors, obesity, type II diabetes, dyslipidemia and hypertension (collectively metabolic syndrome).

Genizon’s technology platform and discoveries can complement current R&D programs by using human genetics to significantly enhance research and by adding value at multiple stages of the drug development process.

Genizon is continually developing and enhancing its gene and biomarker discovery platform. For example, the company is assessing the role of copy number variations (CNVs) in diseases- applying new methods to ongoing large-scale GWAS in rheumatoid arthritis and metabolic syndrome, and retrospectively to previous studies.

Genizon also leverages its platform and expertise by offering high throughput, high quality SNP genotyping, statistical genetics, gene expression and pharmacogenomics services to academic institutions, research organizations and the biopharmaceutical industry.

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