Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population
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{"title"=>"Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population", "type"=>"journal", "authors"=>[{"first_name"=>"Nori", "last_name"=>"Matsunami", "scopus_author_id"=>"7005577367"}, {"first_name"=>"Dexter", "last_name"=>"Hadley", "scopus_author_id"=>"16030910500"}, {"first_name"=>"Charles H.", "last_name"=>"Hensel", "scopus_author_id"=>"55556266300"}, {"first_name"=>"G. Bryce", "last_name"=>"Christensen", "scopus_author_id"=>"16506309700"}, {"first_name"=>"Cecilia", "last_name"=>"Kim", "scopus_author_id"=>"7409876592"}, {"first_name"=>"Edward", "last_name"=>"Frackelton", "scopus_author_id"=>"17345796400"}, {"first_name"=>"Kelly", "last_name"=>"Thomas", "scopus_author_id"=>"35182062000"}, {"first_name"=>"Renata Pellegrino", "last_name"=>"da Silva", "scopus_author_id"=>"55555675600"}, {"first_name"=>"Jeff", "last_name"=>"Stevens", "scopus_author_id"=>"7403175417"}, {"first_name"=>"Lisa", "last_name"=>"Baird", "scopus_author_id"=>"7005104001"}, {"first_name"=>"Brith", "last_name"=>"Otterud", "scopus_author_id"=>"6603938221"}, {"first_name"=>"Karen", "last_name"=>"Ho", "scopus_author_id"=>"36819419200"}, {"first_name"=>"Tena", "last_name"=>"Varvil", "scopus_author_id"=>"56760088300"}, {"first_name"=>"Tami", "last_name"=>"Leppert", "scopus_author_id"=>"55485100000"}, {"first_name"=>"Christophe G.", "last_name"=>"Lambert", "scopus_author_id"=>"36840107900"}, {"first_name"=>"Mark", "last_name"=>"Leppert", "scopus_author_id"=>"35351313000"}, {"first_name"=>"Hakon", "last_name"=>"Hakonarson", "scopus_author_id"=>"55531171800"}], "year"=>2013, "source"=>"PLoS ONE", "identifiers"=>{"pui"=>"368116073", "sgr"=>"84872318561", "scopus"=>"2-s2.0-84872318561", "isbn"=>"2040-2392 (Electronic)", "pmid"=>"24467814", "doi"=>"10.1371/journal.pone.0052239", "issn"=>"19326203"}, "id"=>"56a4ceb2-f737-35a4-830e-cc1e3334848a", "abstract"=>"BACKGROUND: Genetics clearly plays a major role in the etiology of autism spectrum disorders (ASDs), but studies to date are only beginning to characterize the causal genetic variants responsible. Until recently, studies using multiple extended multi-generation families to identify ASD risk genes had not been undertaken. METHODS: We identified haplotypes shared among individuals with ASDs in large multiplex families, followed by targeted DNA capture and sequencing to identify potential causal variants. We also assayed the prevalence of the identified variants in a large ASD case/control population. RESULTS: We identified 584 non-conservative missense, nonsense, frameshift and splice site variants that might predispose to autism in our high-risk families. Eleven of these variants were observed to have odds ratios greater than 1.5 in a set of 1,541 unrelated children with autism and 5,785 controls. Three variants, in the RAB11FIP5, ABP1, and JMJD7-PLA2G4B genes, each were observed in a single case and not in any controls. These variants also were not seen in public sequence databases, suggesting that they may be rare causal ASD variants. Twenty-eight additional rare variants were observed only in high-risk ASD families. Collectively, these 39 variants identify 36 genes as ASD risk genes. Segregation of sequence variants and of copy number variants previously detected in these families reveals a complex pattern, with only a RAB11FIP5 variant segregating to all affected individuals in one two-generation pedigree. Some affected individuals were found to have multiple potential risk alleles, including sequence variants and copy number variants (CNVs), suggesting that the high incidence of autism in these families could be best explained by variants at multiple loci. CONCLUSIONS: Our study is the first to use haplotype sharing to identify familial ASD risk loci. In total, we identified 39 variants in 36 genes that may confer a genetic risk of developing autism. The observation of 11 of these variants in unrelated ASD cases further supports their role as ASD risk variants.", "link"=>"http://www.mendeley.com/research/identification-rare-recurrent-copy-number-variants-highrisk-autism-families-prevalence-large-asd-pop", "reader_count"=>129, "reader_count_by_academic_status"=>{"Unspecified"=>1, "Professor > Associate Professor"=>17, "Researcher"=>30, "Student > Doctoral Student"=>9, "Student > Ph. D. Student"=>26, "Student > Postgraduate"=>2, "Other"=>8, "Student > Master"=>20, "Student > Bachelor"=>8, "Professor"=>8}, "reader_count_by_user_role"=>{"Unspecified"=>1, "Professor > Associate Professor"=>17, "Researcher"=>30, "Student > Doctoral Student"=>9, "Student > Ph. D. Student"=>26, "Student > Postgraduate"=>2, "Other"=>8, "Student > Master"=>20, "Student > Bachelor"=>8, "Professor"=>8}, "reader_count_by_subject_area"=>{"Unspecified"=>4, "Environmental Science"=>1, "Biochemistry, Genetics and Molecular Biology"=>16, "Agricultural and Biological Sciences"=>57, "Medicine and Dentistry"=>29, "Neuroscience"=>4, "Psychology"=>7, "Chemistry"=>1, "Social Sciences"=>4, "Computer Science"=>6}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>29}, "Neuroscience"=>{"Neuroscience"=>4}, "Chemistry"=>{"Chemistry"=>1}, "Social Sciences"=>{"Social Sciences"=>4}, "Psychology"=>{"Psychology"=>7}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>57}, "Computer Science"=>{"Computer Science"=>6}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>16}, "Unspecified"=>{"Unspecified"=>4}, "Environmental Science"=>{"Environmental Science"=>1}}, "reader_count_by_country"=>{"Netherlands"=>2, "Sweden"=>1, "United States"=>5, "Brazil"=>2, "Poland"=>1, "Mexico"=>1, "Malaysia"=>1, "Israel"=>2, "Germany"=>1, "Iceland"=>1}, "group_count"=>6}

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/276791", "https://ndownloader.figshare.com/files/276812"], "description"=>"<div><p>Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs), and numerous studies documenting the relevance of copy number variants (CNVs) in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs) on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD.</p> </div>", "links"=>[], "tags"=>["recurrent", "variants", "high-risk", "autism", "prevalence", "asd", "population"], "article_id"=>114541, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>["https://dx.doi.org/10.1371/journal.pone.0052239.s001", "https://dx.doi.org/10.1371/journal.pone.0052239.s002"], "stats"=>{"downloads"=>23, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Identification_of_Rare_Recurrent_Copy_Number_Variants_in_High_Risk_Autism_Families_and_Their_Prevalence_in_a_Large_ASD_Population__/114541", "title"=>"Identification of Rare Recurrent Copy Number Variants in High-Risk Autism Families and Their Prevalence in a Large ASD Population", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2013-01-14 01:15:41"}
  • {"files"=>["https://ndownloader.figshare.com/files/507965"], "description"=>"<p>CNVs observed in the vicinity of the <i>NRXN1-alpha</i> transcription start site are shown. Note that most CNVs observed in ASD patients include exon 1 of <i>NRXN1-alpha</i> while only 1 control CNV extends into exon 1. Produced with custom tracks listing CNV calls and uploaded to <a href=\"http://genome.ucsc.edu\" target=\"_blank\">http://genome.ucsc.edu</a>.</p>", "links"=>[], "tags"=>["genome", "browser", "cnvs"], "article_id"=>178435, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.g003", "stats"=>{"downloads"=>1, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_UCSC_Genome_browser_view_of_CNVs_in_the_NRXN1_region_/178435", "title"=>"UCSC Genome browser view of CNVs in the <i>NRXN1</i> region.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-14 02:20:35"}
  • {"files"=>["https://ndownloader.figshare.com/files/508472"], "description"=>"*<p>Denotes CNVs contiguous with the chromosome 15q11.2–13.1 CNV shown in <a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0052239#pone-0052239-t003\" target=\"_blank\">Table 3</a>.</p>", "links"=>[], "tags"=>["cnvs", "observed"], "article_id"=>178950, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t004", "stats"=>{"downloads"=>0, "page_views"=>2, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Published_CNVs_observed_in_our_sample_population_/178950", "title"=>"Published CNVs observed in our sample population.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:29:10"}
  • {"files"=>["https://ndownloader.figshare.com/files/508418"], "description"=>"<p>Network scores are the –log P for the results of a right-tailed Fisher's Exact Test.</p>", "links"=>[], "tags"=>["networks", "pathway", "ingenuity"], "article_id"=>178887, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t005", "stats"=>{"downloads"=>4, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Top_Significant_Networks_Identified_by_Pathway_Analysis_using_Ingenuity_IPA_/178887", "title"=>"Top Significant Networks Identified by Pathway Analysis using Ingenuity IPA.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:28:07"}
  • {"files"=>["https://ndownloader.figshare.com/files/507853"], "description"=>"<p>Association statistics across all regions covered on the Illumina custom array are shown. Since the array used was not a genome-wide array, the width of each chromosome on the plot is not proportional to the chromosome length. Adjacent chromosomes are displayed in alternating red and blue colors to aid in distinguishing them.</p>", "links"=>[], "tags"=>["cnvs", "called", "penncnv"], "article_id"=>178326, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.g002", "stats"=>{"downloads"=>3, "page_views"=>29, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Manhattan_plot_of_CNVs_called_both_by_PennCNV_and_CNAM_/178326", "title"=>"Manhattan plot of CNVs called both by PennCNV and CNAM.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-14 02:18:46"}
  • {"files"=>["https://ndownloader.figshare.com/files/507741"], "description"=>"<p>The same process was used for both CNAM and PennCNV analyses. All samples used for CNV analysis in this study had to meet the quality control measures described. Only unrelated cases and controls were used for the final statistical analysis.</p>", "links"=>[], "tags"=>["cnv", "samples"], "article_id"=>178214, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.g001", "stats"=>{"downloads"=>1, "page_views"=>8, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Workflow_for_CNV_analysis_for_samples_analyzed_on_the_custom_array_/178214", "title"=>"Workflow for CNV analysis for samples analyzed on the custom array.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-14 02:16:54"}
  • {"files"=>["https://ndownloader.figshare.com/files/508098"], "description"=>"<p>Duplications were called by both PennCNV and by CNAM in this region, however the number of duplications called by each program differed, with many additional duplications called by CNAM. Produced with custom tracks listing CNV calls and uploaded to <a href=\"http://genome.ucsc.edu\" target=\"_blank\">http://genome.ucsc.edu</a>.</p>", "links"=>[], "tags"=>["genome", "browser", "cnvs", "gabr", "chromosome"], "article_id"=>178567, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.g004", "stats"=>{"downloads"=>1, "page_views"=>7, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_UCSC_Genome_Browser_View_of_CNVs_in_the_GABR_Region_on_chromosome_15q12_/178567", "title"=>"UCSC Genome Browser View of CNVs in the GABR Region on chromosome 15q12.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2013-01-14 02:22:47"}
  • {"files"=>["https://ndownloader.figshare.com/files/508351"], "description"=>"<p>The right-tailed Fisher's exact test was used to calculate P-values representing the probability that selecting genes associated with that pathway or network is due to chance alone. Each functional category represents a collection of associated subcategories, each of which has an associated P-value. For example, within ‘Neurological Disease,’ are subcategories of genes associated with seizures, Huntington Disease, schizophrenia, etc. The P-value range given represents the range of P-values generated for each subcategory. In the first line, 14 genes were associated with a function in Neurological Disease by Ingenuity software. An additional 4 genes were identified as having neurological functions in the literature, giving a total of 18 with known or suspected roles in neurological disease.</p>", "links"=>[], "tags"=>["functions", "ingenuity", "ipa"], "article_id"=>178826, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t006", "stats"=>{"downloads"=>2, "page_views"=>46, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Top_Significant_Biological_Functions_identified_by_Ingenuity_IPA_and_literature_searches_/178826", "title"=>"Top Significant Biological Functions identified by Ingenuity IPA and literature searches.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:27:06"}
  • {"files"=>["https://ndownloader.figshare.com/files/508300"], "description"=>"<p>Case and control samples used in this study.</p>", "links"=>[], "tags"=>["samples"], "article_id"=>178775, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t001", "stats"=>{"downloads"=>0, "page_views"=>9, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Case_and_control_samples_used_in_this_study_/178775", "title"=>"Case and control samples used in this study.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:26:15"}
  • {"files"=>["https://ndownloader.figshare.com/files/508203"], "description"=>"<p>CNVs shown here were selected based on their p value, their case/control odds ratio, or both and were subject to molecular validation.</p>*<p>This CNV is contiguous with the chromosome 15q11.2 CNV described in <a href=\"http://www.plosone.org/article/info:doi/10.1371/journal.pone.0052239#pone-0052239-t004\" target=\"_blank\">Table 4</a> based on TaqMan data.</p>#<p>Designates CNVs not previously seen in ASD, based on queries for genes included in or flanking the CNV.</p>", "links"=>[], "tags"=>["cnvs", "discovered", "affected", "children", "utah"], "article_id"=>178678, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t003", "stats"=>{"downloads"=>1, "page_views"=>5, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Validated_CNVs_discovered_using_affected_children_from_Utah_families_/178678", "title"=>"Validated CNVs discovered using affected children from Utah families.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:24:38"}
  • {"files"=>["https://ndownloader.figshare.com/files/508244"], "description"=>"<p>A summary of the PCR validation result is shown. Sequence SNP CNVs were discovered in this work using SNVs present on this array for sequence variant confirmation in the same cohort.</p>", "links"=>[], "tags"=>["cnv", "calls", "quantitative"], "article_id"=>178721, "categories"=>["Biochemistry", "Information And Computing Sciences", "Biological Sciences", "Neuroscience", "Genetics", "Evolutionary Biology"], "users"=>["Nori Matsunami", "Dexter Hadley", "Charles H. Hensel", "G. Bryce Christensen", "Cecilia Kim", "Edward Frackelton", "Kelly Thomas", "Renata Pellegrino da Silva", "Jeff Stevens", "Lisa Baird", "Brith Otterud", "Karen Ho", "Tena Varvil", "Tami Leppert", "Christophe G. Lambert", "Mark Leppert", "Hakon Hakonarson"], "doi"=>"https://dx.doi.org/10.1371/journal.pone.0052239.t002", "stats"=>{"downloads"=>3, "page_views"=>20, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/_Confirmation_of_CNV_calls_by_quantitative_PCR_/178721", "title"=>"Confirmation of CNV calls by quantitative PCR.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2013-01-14 02:25:21"}

PMC Usage Stats | Further Information

  • {"unique-ip"=>"31", "full-text"=>"35", "pdf"=>"12", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"7", "cited-by"=>"0", "year"=>"2013", "month"=>"1"}
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  • {"unique-ip"=>"81", "full-text"=>"88", "pdf"=>"41", "abstract"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"23", "supp-data"=>"8", "cited-by"=>"0", "year"=>"2013", "month"=>"2"}
  • {"unique-ip"=>"45", "full-text"=>"55", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"5", "cited-by"=>"0", "year"=>"2013", "month"=>"4"}
  • {"unique-ip"=>"46", "full-text"=>"58", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2013", "month"=>"5"}
  • {"unique-ip"=>"22", "full-text"=>"25", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"6", "cited-by"=>"0", "year"=>"2013", "month"=>"6"}
  • {"unique-ip"=>"36", "full-text"=>"38", "pdf"=>"18", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"13", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2013", "month"=>"7"}
  • {"unique-ip"=>"15", "full-text"=>"15", "pdf"=>"9", "abstract"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2013", "month"=>"8"}
  • {"unique-ip"=>"25", "full-text"=>"23", "pdf"=>"11", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2013", "month"=>"9"}
  • {"unique-ip"=>"26", "full-text"=>"29", "pdf"=>"20", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"12", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2013", "month"=>"10"}
  • {"unique-ip"=>"35", "full-text"=>"39", "pdf"=>"16", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"9", "supp-data"=>"3", "cited-by"=>"1", "year"=>"2013", "month"=>"11"}
  • {"unique-ip"=>"21", "full-text"=>"22", "pdf"=>"14", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2013", "month"=>"12"}
  • {"unique-ip"=>"43", "full-text"=>"44", "pdf"=>"20", "abstract"=>"2", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"3", "cited-by"=>"1", "year"=>"2014", "month"=>"1"}
  • {"unique-ip"=>"27", "full-text"=>"30", "pdf"=>"15", "abstract"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2014", "month"=>"2"}
  • {"unique-ip"=>"26", "full-text"=>"24", "pdf"=>"10", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2014", "month"=>"3"}
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  • {"unique-ip"=>"28", "full-text"=>"24", "pdf"=>"17", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"12", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2014", "month"=>"4"}
  • {"unique-ip"=>"19", "full-text"=>"22", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"4", "cited-by"=>"0", "year"=>"2015", "month"=>"4"}
  • {"unique-ip"=>"25", "full-text"=>"25", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2015", "month"=>"5"}
  • {"unique-ip"=>"24", "full-text"=>"27", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2015", "month"=>"6"}
  • {"unique-ip"=>"22", "full-text"=>"23", "pdf"=>"5", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2015", "month"=>"7"}
  • {"unique-ip"=>"25", "full-text"=>"30", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"1", "cited-by"=>"1", "year"=>"2015", "month"=>"3"}
  • {"unique-ip"=>"24", "full-text"=>"31", "pdf"=>"10", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2015", "month"=>"2"}
  • {"unique-ip"=>"24", "full-text"=>"23", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"1", "year"=>"2015", "month"=>"8"}
  • {"unique-ip"=>"24", "full-text"=>"22", "pdf"=>"9", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2015", "month"=>"9"}
  • {"unique-ip"=>"16", "full-text"=>"17", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"2", "cited-by"=>"1", "year"=>"2015", "month"=>"10"}
  • {"unique-ip"=>"27", "full-text"=>"33", "pdf"=>"12", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"0", "cited-by"=>"1", "year"=>"2014", "month"=>"7"}
  • {"unique-ip"=>"16", "full-text"=>"17", "pdf"=>"9", "abstract"=>"1", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2014", "month"=>"8"}
  • {"unique-ip"=>"28", "full-text"=>"26", "pdf"=>"11", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"5", "supp-data"=>"5", "cited-by"=>"1", "year"=>"2014", "month"=>"9"}
  • {"unique-ip"=>"20", "full-text"=>"15", "pdf"=>"13", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2014", "month"=>"10"}
  • {"unique-ip"=>"32", "full-text"=>"32", "pdf"=>"12", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"1"}
  • {"unique-ip"=>"20", "full-text"=>"23", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"0", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"2"}
  • {"unique-ip"=>"27", "full-text"=>"13", "pdf"=>"35", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"3", "cited-by"=>"0", "year"=>"2014", "month"=>"11"}
  • {"unique-ip"=>"16", "full-text"=>"11", "pdf"=>"10", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2014", "month"=>"12"}
  • {"unique-ip"=>"24", "full-text"=>"30", "pdf"=>"18", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2015", "month"=>"1"}
  • {"unique-ip"=>"28", "full-text"=>"30", "pdf"=>"10", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"3", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2015", "month"=>"11"}
  • {"unique-ip"=>"26", "full-text"=>"24", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"6", "supp-data"=>"5", "cited-by"=>"1", "year"=>"2015", "month"=>"12"}
  • {"unique-ip"=>"17", "full-text"=>"18", "pdf"=>"7", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"3"}
  • {"unique-ip"=>"21", "full-text"=>"30", "pdf"=>"9", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2016", "month"=>"4"}
  • {"unique-ip"=>"29", "full-text"=>"27", "pdf"=>"22", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"1", "cited-by"=>"0", "year"=>"2016", "month"=>"5"}
  • {"unique-ip"=>"19", "full-text"=>"18", "pdf"=>"12", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"6"}
  • {"unique-ip"=>"17", "full-text"=>"17", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"7"}
  • {"unique-ip"=>"29", "full-text"=>"29", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"4", "supp-data"=>"2", "cited-by"=>"0", "year"=>"2016", "month"=>"8"}
  • {"unique-ip"=>"20", "full-text"=>"21", "pdf"=>"6", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"9"}
  • {"unique-ip"=>"17", "full-text"=>"16", "pdf"=>"3", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"7", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"10"}
  • {"unique-ip"=>"13", "full-text"=>"19", "pdf"=>"5", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"1", "supp-data"=>"0", "cited-by"=>"1", "year"=>"2016", "month"=>"11"}
  • {"unique-ip"=>"26", "full-text"=>"29", "pdf"=>"8", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"14", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2016", "month"=>"12"}
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  • {"unique-ip"=>"18", "full-text"=>"23", "pdf"=>"4", "abstract"=>"0", "scanned-summary"=>"0", "scanned-page-browse"=>"0", "figure"=>"2", "supp-data"=>"0", "cited-by"=>"0", "year"=>"2017", "month"=>"2"}
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Relative Metric

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