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A brief overview of game-changing genetic engineering projects

Journal of Bio-X Research 2023年第4期6卷 124-132页

作者： Poulami Khan Saheli Basu Roy Department of Biochemistry Asutosh CollegeUniversity of CalcuttaKolkataIndia

In recent era,advancement of research involves computational management of large-scale genomic and post-genomic datasets in an obvious *** emerging field of bioinformatics,fueled by high-throughput technologies and genomic scale database,is believed to reshape our approach of research to a new *** has shifted the paradigm of biological perspectives exploring many *** initiatives paved the path for the newer and more advantageous *** present review focuses on present initiatives that are implemented till now like the famous Human genome project and its influence on digital biology,as well as the projects that followed in its ***,the authors delve into the future potential of personalized medicine and the use of genetic engineering methods like CRISPR/Cas9 in gene editing,which are thought to have the potential to revolutionize the current treatment strategy.

关键词： 1000 genome project Cancer genome ATLAS project ENCODE project Human genome project International HAPMAP project

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Effect of genome-Wide Genotyping and Reference Panels on Rare Variants Imputation

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Journal of Genetics and Genomics 2012年第10期39卷 545-550页

作者： Hou-Feng Zheng Martin Ladouceur Celia M.T. Greenwood J. Brent Richards Department of Medicine Human Genetics McGill University Montreal Quebec H3T 1E2 Canada Department of Epidemiology and Biostatistics Lady Davis Institute for Medical Research Jewish General Hospital Montreal Quebec H3T 1E2 Canada Research Center of Montreal Heart Institute Montreal Quebec HIT 1C8 Canada Department of Oncology McGill University Montreal Quebec H3T IE2 Canada Twin Research and Genetic Epidemiology King's College London London SE1 7EH United Kingdom

Common variants explain little of the variance of most common disease, prompting large-scale sequencing studies to understand the contribution of rare variants to these diseases. Imputation of rare variants from genome-wide genotypic arrays offers a cost-efficient strategy to achieve necessary sample sizes required for adequate statistical power. To estimate the performance of imputation of rare variants, we imputed 153 individuals, each of whom was genotyped on 3 different genotype arrays including 317k, 610k and 1 million single nucleotide polymorphisms （SNPs）, to two different reference panels： HapMap2 and 1000 genomes pilot March 2010 release （1KGpilot） by using IMPUTE version 2. We found that more than 94% and 84% of all SNPs yield acceptable accuracy （info 〉 0.4） in HapMap2 and 1KGpilot-based imputation, respectively. For rare variants （minor allele frequency （MAF）〈5%）, the proportion of well- imputed SNPs increased as the MAF increased from 0.3% to 5% across all 3 genome-wide association study （GWAS） datasets. The proportion of well-imputed SNPs was 69%, 60% and 49% for SNPs with a MAF from 0.3% to 5% for 1M, 610k and 317k, respectively. None of the very rare variants （MAF 〈 0.3%） were well imputed. We conclude that the imputation accuracy of rare variants increases with higher density of genome-wide genotyping arrays when the size of the reference panel is small. Variants with lower MAF are more difficult to impute. These findings have important implications in the design and replication of large-scale sequencing studies.

关键词： Genotype imputation genome-wide association study 1000 genome project HapMap Rare variant Common disease

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