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Genotype analysis and graph databases

Genotype analysis and graph databases AndrewStephenLaw August17,2017 MScinHighPerformanceComputingwithDataScience TheUniversityofEdinburgh YearofPresentation: 2017



A comprehensive global genotype phenotype database for rare

gene variant databases for rare Mendelian disorders have become crucial in today’s data-driven genetic diagnostics, and play a role in life-and-death decisions (George et al 2008) Such databases consist of aggregated genotype– phenotype data and assist enquiring laboratories or clini-cians, making sequence variant interpretation easier and



SNP Resources: Finding SNPs Databases and Data Extraction

Databases and Data Extraction Mark J Rieder, PhD Robert J Livingston, “ ”PhD NIEHS Variation Workshop January 30-31, 2005 Genotype - Phenotype Studies Typical Approach: “I have candidate gene/region and samples ready to study Tell me what SNPs to genotype ” Other questions: How do I know I have *all* the SNPs?



Genotype-Imputation Accuracy across Worldwide Human Populations

polymorphism (SNP) genotype databases from several human populations has facilitated the mapping of complex-disease loci in genome-wide association (GWA) studies These databases, such as The International HapMap Project (2 5 to 4 million SNPs genome-wide1,2) and SeattleSNPs (~7 Mb of gene-resequencing data),



Genotype Extraction and False Relative Attacks: Security

directly; rather, they offer databases and tools to store and analyze it In this paper, we focus on third-party services that specialize at the intersection of genetics and genealogy, known as genetic genealogy The main goal of genetic genealogy is to predict new famil-ial relations using genetic information This technique, known



Reconstructing Genotypes in Private Genomic Databases from

databases rests on the longevity of the encryption scheme [7], it is also important We reconstruct the genotype of those individuals added to the second study, using the GRS from each study and an



Identifying Mycobacterium tuberculosis Complex Strain

international databases necessitate development of computational methods to analyze and exploit the large volumes of heterogeneous data Despite some successful attempts, TB epidemiologists are still in great need for automated analytical and decision-making tools for exploiting genotype databases



Bioinformatic curation and alignment of genotyped hepatitis B

Public sequence databases Direct (Sanger) DNA sequencing (Sanger et al 1977) is a relatively inexpensive and rou-tine procedure in molecular biology DNA sequence data are used to identify or com

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