Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate
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{"title"=>"Genome-Wide Association Studies in Dogs and Humans Identify ADAMTS20 as a Risk Variant for Cleft Lip and Palate", "type"=>"journal", "authors"=>[{"first_name"=>"Zena T.", "last_name"=>"Wolf", "scopus_author_id"=>"48661640300"}, {"first_name"=>"Harrison A.", "last_name"=>"Brand", "scopus_author_id"=>"56258941300"}, {"first_name"=>"John R.", "last_name"=>"Shaffer", "scopus_author_id"=>"22954473100"}, {"first_name"=>"Elizabeth J.", "last_name"=>"Leslie", "scopus_author_id"=>"36150834000"}, {"first_name"=>"Boaz", "last_name"=>"Arzi", "scopus_author_id"=>"6507179130"}, {"first_name"=>"Cali E.", "last_name"=>"Willet", "scopus_author_id"=>"55336313600"}, {"first_name"=>"Timothy C.", "last_name"=>"Cox", "scopus_author_id"=>"53979641500"}, {"first_name"=>"Toby", "last_name"=>"McHenry", "scopus_author_id"=>"24335513300"}, {"first_name"=>"Nicole", "last_name"=>"Narayan", "scopus_author_id"=>"56366685200"}, {"first_name"=>"Eleanor", "last_name"=>"Feingold", "scopus_author_id"=>"7006820121"}, {"first_name"=>"Xioajing", "last_name"=>"Wang", "scopus_author_id"=>"56582574600"}, {"first_name"=>"Saundra", "last_name"=>"Sliskovic", "scopus_author_id"=>"56178725700"}, {"first_name"=>"Nili", "last_name"=>"Karmi", "scopus_author_id"=>"25724449600"}, {"first_name"=>"Noa", "last_name"=>"Safra", "scopus_author_id"=>"9743276900"}, {"first_name"=>"Carla", "last_name"=>"Sanchez", "scopus_author_id"=>"56457379800"}, {"first_name"=>"Frederic W.B.", "last_name"=>"Deleyiannis", "scopus_author_id"=>"9045044100"}, {"first_name"=>"Jeffrey C.", "last_name"=>"Murray", "scopus_author_id"=>"7404760616"}, {"first_name"=>"Claire M.", "last_name"=>"Wade", "scopus_author_id"=>"7102531600"}, {"first_name"=>"Mary L.", "last_name"=>"Marazita", "scopus_author_id"=>"7006257137"}, {"first_name"=>"Danika L.", "last_name"=>"Bannasch", "scopus_author_id"=>"6603323478"}], "year"=>2015, "source"=>"PLoS Genetics", "identifiers"=>{"pui"=>"603513978", "sgr"=>"84926327004", "pmid"=>"25798845", "scopus"=>"2-s2.0-84926327004", "isbn"=>"1553-7404 (Electronic)\\r1553-7390 (Linking)", "doi"=>"10.1371/journal.pgen.1005059", "issn"=>"15537404"}, "id"=>"46590fa9-dd20-3f8c-b1d4-b810a33dfe7e", "abstract"=>"Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10(-13); adjusted p= 2.2 x 10(-3)). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 - 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within ADAMTS20 (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10-6) with the same gene, ADAMTS20. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of ADAMTS20, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of ADAMTS20 in CL/P development in dogs and as a candidate gene for CL/P development in humans.", "link"=>"http://www.mendeley.com/research/genomewide-association-studies-dogs-humans-identify-adamts20-risk-variant-cleft-lip-palate-1", "reader_count"=>34, "reader_count_by_academic_status"=>{"Professor > Associate Professor"=>3, "Librarian"=>1, "Researcher"=>7, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>9, "Student > Postgraduate"=>5, "Other"=>4, "Student > Master"=>1, "Student > Bachelor"=>3}, "reader_count_by_user_role"=>{"Professor > Associate Professor"=>3, "Librarian"=>1, "Researcher"=>7, "Student > Doctoral Student"=>1, "Student > Ph. D. Student"=>9, "Student > Postgraduate"=>5, "Other"=>4, "Student > Master"=>1, "Student > Bachelor"=>3}, "reader_count_by_subject_area"=>{"Unspecified"=>1, "Biochemistry, Genetics and Molecular Biology"=>4, "Agricultural and Biological Sciences"=>13, "Medicine and Dentistry"=>9, "Veterinary Science and Veterinary Medicine"=>6, "Social Sciences"=>1}, "reader_count_by_subdiscipline"=>{"Medicine and Dentistry"=>{"Medicine and Dentistry"=>9}, "Social Sciences"=>{"Social Sciences"=>1}, "Agricultural and Biological Sciences"=>{"Agricultural and Biological Sciences"=>13}, "Biochemistry, Genetics and Molecular Biology"=>{"Biochemistry, Genetics and Molecular Biology"=>4}, "Unspecified"=>{"Unspecified"=>1}, "Veterinary Science and Veterinary Medicine"=>{"Veterinary Science and Veterinary Medicine"=>6}}, "group_count"=>2}

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Scopus | Further Information

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Figshare

  • {"files"=>["https://ndownloader.figshare.com/files/1982427"], "description"=>"<p>A. Manhattan plot of—log<sub>10</sub>-transformed p-values by chromosome. The most significant SNP (CFA27: 11419150) has an unadjusted p-value = 1.1 x 10<sup>-13</sup>. B. Manhattan plot of empirical p-values adjusted for multiple comparisons via 100,000 permutations. The red horizontal line represents a p-value ≤ 0.05 or genome-wide significance. Genome-wide significance was observed for 20 SNPs on CFA27 (lowest adjusted p-value = 2.2x10<sup>-3</sup>). C. Plot of the unadjusted p-values by Mb on CFA27 depicting the associated region. D. Haplotypes observed in the 13 NSDTR cases that were homozygous throughout the associated interval. Horizontal bars represent NSDTRs cases with the homozygous haplotype, with runs of homozygosity in green. The critical interval is defined by the shared homozygous haplotype denoted by the black bars (CFA27: 9.29–10.73 Mb).</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350956, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.g001", "stats"=>{"downloads"=>0, "page_views"=>4, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/GWAS_results_of_NSDTRs_with_CL_P_/1350956", "title"=>"GWAS results of NSDTRs with CL/P.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982441"], "description"=>"<p>* p-value for the gene-based analysis</p><p><sup>#</sup> p-value</p><p>VEGAS results using DFAM p-values from human data.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350970, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t006", "stats"=>{"downloads"=>1, "page_views"=>30, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/VEGAS_results_using_DFAM_p_values_from_human_data_/1350970", "title"=>"VEGAS results using DFAM p-values from human data.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982436"], "description"=>"<p>* NSDTRs from [<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005059#pgen.1005059.ref024\" target=\"_blank\">24</a>]</p><p>Summary of NSDTRs with the associated homozygous haplotype on CFA27.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350965, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t001", "stats"=>{"downloads"=>3, "page_views"=>17, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Summary_of_NSDTRs_with_the_associated_homozygous_haplotype_on_CFA27_/1350965", "title"=>"Summary of NSDTRs with the associated homozygous haplotype on CFA27.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982435"], "description"=>"<p>A. Manhattan plot showing-log<sub>10</sub>-transformed p-values from genome-wide DFAM analysis of CL/P. Analysis included 125 affected and 812 unaffected participants. B. LocusZoom plot showing—log<sub>10</sub>-transformed p-values (left y-axis) for genotyped (squares) and imputed (circles) SNPs in and near <i>ADAMTS20</i> on chromosome 12. The recombination overlay (blue line, right y-axis) indicates the boundaries of the LD-block containing <i>ADAMTS20</i>. The density of SNPs in this region is indicated by the rug plot (top). C. KGG.v2 gene plot showing association and linkage disequilibrium (LD; r<sup>2</sup>) of genotyped SNPs in <i>ADAMTS20</i>.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350964, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.g005", "stats"=>{"downloads"=>0, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genetic_association_results_for_CL_P_in_Guatemalans_/1350964", "title"=>"Genetic association results for CL/P in Guatemalans.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982432"], "description"=>"<p>A-C. Rostral view of the nose and lip. A. Wild type. B. Cleft of the lower alar nasal folds. C. Bilateral complete primary palatal cleft. D-G. 3D reconstruction of microCT imaging of puppy skulls with the mandibles digitally removed. The maxillary and palatine bones that make up the secondary palate are depicted in dark blue and the incisive bone of the primary palate is depicted in light blue. D &amp; E. Rostral view of wild type and affected individual, respectively, showing complete bilateral cleft lip (E). F &amp; G. Ventral view of wild type and affected individual, respectively, showing complete bilateral cleft lip, secondary palate cleft, and laterally placed tympanic rings (depicted in red). H-K.Ventral view of the paws depicting variation in syndactyly phenotypes in NSDTRs. H. Wild type. I. Incomplete syndactyly, i.e. only partial soft tissue fusion of digits three and four. J. Complete syndactyly, i.e. complete soft tissue fusion of digits three and four. K. Dorsoplantar radiograph of NSDTR right forepaw with complete syndactyly. Arrowhead points to the interdigital space demonstrating only soft tissue involvement.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350961, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.g002", "stats"=>{"downloads"=>0, "page_views"=>21, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Phenotypic_spectrum_of_CLPS_in_NSDTRs_/1350961", "title"=>"Phenotypic spectrum of CLPS in NSDTRs.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982443", "https://ndownloader.figshare.com/files/1982454", "https://ndownloader.figshare.com/files/1982453", "https://ndownloader.figshare.com/files/1982452", "https://ndownloader.figshare.com/files/1982451", "https://ndownloader.figshare.com/files/1982450", "https://ndownloader.figshare.com/files/1982449", "https://ndownloader.figshare.com/files/1982448", "https://ndownloader.figshare.com/files/1982447", "https://ndownloader.figshare.com/files/1982446", "https://ndownloader.figshare.com/files/1982445", "https://ndownloader.figshare.com/files/1982444", "https://ndownloader.figshare.com/files/1982455"], "description"=>"<div><p>Cleft lip with or without cleft palate (CL/P) is the most commonly occurring craniofacial birth defect. We provide insight into the genetic etiology of this birth defect by performing genome-wide association studies in two species: dogs and humans. In the dog, a genome-wide association study of 7 CL/P cases and 112 controls from the Nova Scotia Duck Tolling Retriever (NSDTR) breed identified a significantly associated region on canine chromosome 27 (unadjusted p=1.1 x 10<sup>-13</sup>; adjusted p= 2.2 x 10<sup>-3</sup>). Further analysis in NSDTR families and additional full sibling cases identified a 1.44 Mb homozygous haplotype (chromosome 27: 9.29 – 10.73 Mb) segregating with a more complex phenotype of cleft lip, cleft palate, and syndactyly (CLPS) in 13 cases. Whole-genome sequencing of 3 CLPS cases and 4 controls at 15X coverage led to the discovery of a frameshift mutation within <i>ADAMTS20</i> (c.1360_1361delAA (p.Lys453Ilefs*3)), which segregated concordant with the phenotype. In a parallel study in humans, a family-based association analysis (DFAM) of 125 CL/P cases, 420 unaffected relatives, and 392 controls from a Guatemalan cohort, identified a suggestive association (rs10785430; p =2.67 x 10<sup>-6</sup>) with the same gene, <i>ADAMTS20</i>. Sequencing of cases from the Guatemalan cohort was unable to identify a causative mutation within the coding region of <i>ADAMTS20</i>, but four coding variants were found in additional cases of CL/P. In summary, this study provides genetic evidence for a role of <i>ADAMTS20</i> in CL/P development in dogs and as a candidate gene for CL/P development in humans.</p></div>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350972, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>[nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil, nil], "stats"=>{"downloads"=>29, "page_views"=>23, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Genome_Wide_Association_Studies_in_Dogs_and_Humans_Identify_i_ADAMTS20_i_as_a_Risk_Variant_for_Cleft_Lip_and_Palate/1350972", "title"=>"Genome-Wide Association Studies in Dogs and Humans Identify <i>ADAMTS20</i> as a Risk Variant for Cleft Lip and Palate", "pos_in_sequence"=>0, "defined_type"=>4, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982440"], "description"=>"<p>*Calculated from unaffected founders only</p><p><sup>#</sup> 400kb downstream from <i>SPRY2</i></p><p>Single SNP analysis of human GWAS data.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350969, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t005", "stats"=>{"downloads"=>17, "page_views"=>24, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Single_SNP_analysis_of_human_GWAS_data_/1350969", "title"=>"Single SNP analysis of human GWAS data.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982438"], "description"=>"<p>Based on alignments to CanFam 3.1 Boxer reference sequence. Only variants that are homozygous in all cases and not homozygous in any controls were considered to segregate and could be excluded. Variants were filtered against a reference set of 26 control dogs with whole genome sequencing data.</p><p>Summary of variants within the 1.44 Mb critical interval on canine chromosome 27.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350967, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t003", "stats"=>{"downloads"=>6, "page_views"=>24, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Summary_of_variants_within_the_1_44_Mb_critical_interval_on_canine_chromosome_27_/1350967", "title"=>"Summary of variants within the 1.44 Mb critical interval on canine chromosome 27.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982439"], "description"=>"<p>Genomic locations are based on the CanFam3.1 assembly and refer to chromosome 27 base pair locations. The SNPs identified are based on UCSC Genome Browser CanFam 3.1 Broad Improved Canine Annotation v1 SNPs track[<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005059#pgen.1005059.ref027\" target=\"_blank\">27</a>].</p><p>SNPs identified within the canine <i>ADAMTS20</i> coding region.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350968, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t004", "stats"=>{"downloads"=>3, "page_views"=>41, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/SNPs_identified_within_the_canine_i_ADAMTS20_i_coding_region_/1350968", "title"=>"SNPs identified within the canine <i>ADAMTS20</i> coding region.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982437"], "description"=>"<p>Phenotypic spectrum observed in CLPS NSDTRs.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350966, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.t002", "stats"=>{"downloads"=>3, "page_views"=>12, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Phenotypic_spectrum_observed_in_CLPS_NSDTRs_/1350966", "title"=>"Phenotypic spectrum observed in CLPS NSDTRs.", "pos_in_sequence"=>0, "defined_type"=>3, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982434"], "description"=>"<p>Filled symbols represent NSDTR cases. Bold symbols represent NSDTRs that were included in the GWAS. Not all relationships are included. Abbreviations: CLP = cleft lip and palate, CP = cleft palate, S = syndactyly, + = wild type allele, m = <i>ADAMTS20</i> two base pair deletion, and [] = DNA was not available and genotypes were inferred.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350963, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.g004", "stats"=>{"downloads"=>0, "page_views"=>20, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Pedigree_of_NSDTR_families_depicting_segregation_of_the_phenotype_with_the_i_ADAMTS20_i_deletion_/1350963", "title"=>"Pedigree of NSDTR families depicting segregation of the phenotype with the <i>ADAMTS20</i> deletion.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-03-23 05:06:53"}
  • {"files"=>["https://ndownloader.figshare.com/files/1982433"], "description"=>"<p>A. Chromatograms of <i>ADAMTS20</i> cDNA sequence from embryo control and NSDTR case depicting the AA deletion and predicted premature stop codon. * denotes the deleted nucleotides in the 13 NSDTR cases. B. Schematic functional domain organization of ADAMTS20. SP- signal peptide TS- Thrombospondin type 1 motif[<a href=\"http://www.plosgenetics.org/article/info:doi/10.1371/journal.pgen.1005059#pgen.1005059.ref026\" target=\"_blank\">26</a>]. <i>bt</i><sup><i>Bei1—</i></sup>reflects the location of point mutation responsible for the <i>bt</i><sup><i>Bei1</i></sup>allele.</p>", "links"=>[], "tags"=>["human", "ADAMTS 20", "nsdtr", "association", "DFAM", "15 X coverage", "Humans Identify ADAMTS 20", "ADAMTS 20. Sequencing", "Guatemalan cohort", "3 CLPS cases", "Palate Cleft lip", "cleft palate", "Nova Scotia Duck Tolling Retriever", "craniofacial birth defect"], "article_id"=>1350962, "categories"=>["Biological Sciences"], "users"=>["Zena T. Wolf", "Harrison A. Brand", "John R. Shaffer", "Elizabeth J. Leslie", "Boaz Arzi", "Cali E. Willet", "Timothy C. Cox", "Toby McHenry", "Nicole Narayan", "Eleanor Feingold", "Xioajing Wang", "Saundra Sliskovic", "Nili Karmi", "Noa Safra", "Carla Sanchez", "Frederic W. B. Deleyiannis", "Jeffrey C. Murray", "Claire M. Wade", "Mary L. Marazita", "Danika L. Bannasch"], "doi"=>"https://dx.doi.org/10.1371/journal.pgen.1005059.g003", "stats"=>{"downloads"=>0, "page_views"=>17, "likes"=>0}, "figshare_url"=>"https://figshare.com/articles/Characterization_of_i_ADAMTS20_i_mutation_in_NSDTRs_/1350962", "title"=>"Characterization of <i>ADAMTS20</i> mutation in NSDTRs.", "pos_in_sequence"=>0, "defined_type"=>1, "published_date"=>"2015-03-23 05:06:53"}

PMC Usage Stats | Further Information

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{"start_date"=>"2015-01-01T00:00:00Z", "end_date"=>"2015-12-31T00:00:00Z", "subject_areas"=>[]}
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