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{"title"=>"Application of genome-wide single nucleotide polymorphism typing: Simple association and beyond", "type"=>"generic", "authors"=>[{"first_name"=>"J. Raphael", "last_name"=>"Gibbs", "scopus_author_id"=>"16028171700"}, {"first_name"=>"Andrew", "last_name"=>"Singleton", "scopus_author_id"=>"7006092717"}], "year"=>2006, "source"=>"PLoS Genetics", "identifiers"=>{"scopus"=>"2-s2.0-33750467600", "sgr"=>"33750467600", "issn"=>"15537390", "doi"=>"10.1371/journal.pgen.0020150", "pmid"=>"17029559", "isbn"=>"1553-7404 (Electronic)", "pui"=>"44656526"}, "id"=>"3afc2c26-2410-3389-ba3d-89ff63b8b9cd", "abstract"=>"The International HapMap Project and the arrival of technologies that type more than 100,000 SNPs in a single experiment have made genome-wide single nucleotide polymorphism (GW-SNP) assay a realistic endeavor. This has sparked considerable debate regarding the promise of GW-SNP typing to identify genetic association in disease. As has already been shown, this approach has the potential to localize common genetic variation underlying disease risk. The data provided from this technology also lends itself to several other lines of investigation; autozygosity mapping in consanguineous families and outbred populations, direct detection of structural variation, admixture analysis, and other population genetic approaches. In this review we will discuss the potential uses and practical application of GW-SNP typing including those above and beyond simple association testing.", "link"=>"http://www.mendeley.com/research/application-genomewide-single-nucleotide-polymorphism-typing-simple-association-beyond", "reader_count"=>183, "reader_count_by_academic_status"=>{"Unspecified"=>3, "Professor > Associate Professor"=>21, "Librarian"=>1, "Researcher"=>56, "Student > Doctoral Student"=>6, "Student > Ph. D. Student"=>35, "Student > Postgraduate"=>4, "Student > Master"=>19, "Other"=>5, "Student > Bachelor"=>13, "Lecturer"=>3, "Lecturer > Senior Lecturer"=>3, "Professor"=>14}, "reader_count_by_user_role"=>{"Unspecified"=>3, "Professor > Associate Professor"=>21, "Librarian"=>1, "Researcher"=>56, "Student > Doctoral Student"=>6, "Student > Ph. D. Student"=>35, "Student > Postgraduate"=>4, "Student > Master"=>19, "Other"=>5, "Student > Bachelor"=>13, "Lecturer"=>3, "Lecturer > Senior Lecturer"=>3, "Professor"=>14}, "reader_count_by_subject_area"=>{"Unspecified"=>7, "Biochemistry, Genetics and Molecular Biology"=>5, "Mathematics"=>1, "Agricultural and Biological Sciences"=>119, "Medicine and Dentistry"=>30, "Neuroscience"=>2, "Arts and Humanities"=>1, "Psychology"=>7, "Social Sciences"=>2, "Computer Science"=>7, "Immunology and Microbiology"=>1, "Decision Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>30}, "Neuroscience"=>{"Neuroscience"=>2}, "Social Sciences"=>{"Social Sciences"=>2}, "Decision Sciences"=>{"Decision Sciences"=>1}, "Psychology"=>{"Psychology"=>7}, "Immunology and Microbiology"=>{"Immunology and Microbiology"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>119}, "Computer Science"=>{"Computer Science"=>7}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>5}, "Mathematics"=>{"Mathematics"=>1}, "Unspecified"=>{"Unspecified"=>7}, "Arts and Humanities"=>{"Arts and Humanities"=>1}}, "reader_count_by_country"=>{"United States"=>3, "United Kingdom"=>6, "Malaysia"=>1, "Switzerland"=>1, "Iceland"=>1, "Greece"=>1, "Czech Republic"=>1, "Netherlands"=>2, "Turkey"=>1, "Iran"=>1, "Norway"=>1, "Brazil"=>4, "Italy"=>1, "France"=>1, "Chile"=>1, "Germany"=>2, "Ethiopia"=>1}, "group_count"=>6}

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Figshare

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• {"files"=>["https://ndownloader.figshare.com/files/955529"], "description"=>"<p>The regions of extended homozygosity on Chromosomes 3 (upper panel) and 18 (lower panel) are outlined in red. Homozygosity is shown by a lack of A/B genotype calls (corresponding to a B allele frequency of 0.5) coupled with a normal copy number, indicated by an average log R ratio of 0.</p>", "links"=>[], "tags"=>["regions", "homozygosity"], "article_id"=>625820, "categories"=>["Genetics"], "users"=>["J. Raphael Gibbs", "Andrew Singleton"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.0020150.g001", "stats"=>{"downloads"=>4, "page_views"=>18, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Multiple_Regions_of_Extended_Homozygosity_within_a_Single_Subject_Born_from_a_First_Cousin_Marriage_/625820", "title"=>"Multiple Regions of Extended Homozygosity within a Single Subject Born from a First Cousin Marriage", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 13:06:24"}
• {"files"=>["https://ndownloader.figshare.com/files/955816"], "description"=>"<div><p>(A) Common laboratory cell line HEK293.</p><p>(B) Common laboratory cell line M17.</p><p>(C) Human embryonic stem cell line 293F7.</p><p>(D) Human embryonic stem cell line Bg01P3SFF2.</p><p>These include apparent multiplication and deletion mutations in the M17 and HEK293 lines, multiplication mutations across line 293F7, and duplication Chromosome 17 in line Bg01P3SFF2.</p></div>", "links"=>[], "tags"=>["assay", "illumina", "infinium", "ii", "arrays", "reveals"], "article_id"=>626097, "categories"=>["Genetics"], "users"=>["J. Raphael Gibbs", "Andrew Singleton"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.0020150.g003", "stats"=>{"downloads"=>3, "page_views"=>17, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_GW_SNP_Assay_Using_the_Illumina_Infinium_II_Arrays_Reveals_Structural_Variation_in_Chromosomes_/626097", "title"=>"GW-SNP Assay Using the Illumina Infinium II Arrays Reveals Structural Variation in Chromosomes", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-02-21 13:08:30"}

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F1000Prime