Ontology type: schema:ScholarlyArticle Open Access: True
2021-10-06
AUTHORSBehrang Mahjani, Silvia De Rubeis, Christina Gustavsson Mahjani, Maureen Mulhern, Xinyi Xu, Lambertus Klei, F. Kyle Satterstrom, Jack Fu, Michael E. Talkowski, Abraham Reichenberg, Sven Sandin, Christina M. Hultman, Dorothy E. Grice, Kathryn Roeder, Bernie Devlin, Joseph D. Buxbaum
ABSTRACTBackgroundThe Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cognitive levels and delayed age at walking, when compared to ASD participants without pdSNV. Here, we made use of a Swedish sample of individuals with ASD (called PAGES, for Population-Based Autism Genetics & Environment Study) to evaluate the frequency of pdSNV and their impact on medical and psychiatric phenotypes, using an epidemiological frame and universal health reporting. We then combine findings with those for potentially damaging copy number variation (pdCNV).MethodsSNV and CNV calls were generated from whole-exome sequencing and chromosome microarray data, respectively. Birth and medical register data were used to collect phenotypes.ResultsOf 808 individuals assessed by sequencing, 69 (9%) had pdSNV in the 102 ASC genes, and 144 (18%) had pdSNV in the 102 ASC genes or in a larger set of curated neurodevelopmental genes (from the Deciphering Developmental Disorders study, the gene2phenotype database, and the Radboud University gene lists). Three or more individuals had pdSNV in GRIN2B, POGZ, SATB1, DYNC1H1, SCN8A, or CREBBP. In comparison, out of the 996 individuals from whom CNV were called, 105 (11%) carried one or more pdCNV, including four or more individuals with CNV in the recurrent 15q11q13, 22q11.2, and 16p11.2 loci. Carriers of pdSNV were more likely to have intellectual disability (ID) and epilepsy, while carriers of pdCNV showed increased rates of congenital anomalies and scholastic skill disorders. Carriers of either pdSNV or pdCNV were more likely to have ID, scholastic skill disorders, and epilepsy.LimitationsThe cohort only included individuals with autistic disorder, the more severe form of ASD, and phenotypes are defined from medical registers. Not all genes studied are definitively ASD genes, and we did not have de novo information to aid in classification.ConclusionsIn this epidemiological sample, rare pdSNV were more common than pdCNV and the combined yield of potentially damaging variation was substantial at 27%. The results provide compelling rationale for the use of high-throughout sequencing as part of routine clinical workup for ASD and support the development of precision medicine in ASD. More... »
PAGES65
http://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3
DOIhttp://dx.doi.org/10.1186/s13229-021-00465-3
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1141685136
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/34615535
JSON-LD is the canonical representation for SciGraph data.
TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT
[
{
"@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json",
"about": [
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/11",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Medical and Health Sciences",
"type": "DefinedTerm"
},
{
"id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/1117",
"inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/",
"name": "Public Health and Health Services",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Autism Spectrum Disorder",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Autistic Disorder",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "DNA Copy Number Variations",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Humans",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Matrix Attachment Region Binding Proteins",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Phenotype",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Prevalence",
"type": "DefinedTerm"
},
{
"inDefinedTermSet": "https://www.nlm.nih.gov/mesh/",
"name": "Transposases",
"type": "DefinedTerm"
}
],
"author": [
{
"affiliation": {
"alternateName": "Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden",
"id": "http://www.grid.ac/institutes/grid.4714.6",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden"
],
"type": "Organization"
},
"familyName": "Mahjani",
"givenName": "Behrang",
"id": "sg:person.01131574372.87",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01131574372.87"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA"
],
"type": "Organization"
},
"familyName": "De Rubeis",
"givenName": "Silvia",
"id": "sg:person.01335642531.51",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01335642531.51"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Gustavsson Mahjani",
"givenName": "Christina",
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Mulhern",
"givenName": "Maureen",
"id": "sg:person.011063710363.10",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011063710363.10"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Xu",
"givenName": "Xinyi",
"id": "sg:person.010302574002.47",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010302574002.47"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA",
"id": "http://www.grid.ac/institutes/grid.21925.3d",
"name": [
"Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA"
],
"type": "Organization"
},
"familyName": "Klei",
"givenName": "Lambertus",
"id": "sg:person.0675760002.16",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0675760002.16"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
"id": "http://www.grid.ac/institutes/grid.66859.34",
"name": [
"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA"
],
"type": "Organization"
},
"familyName": "Satterstrom",
"givenName": "F. Kyle",
"id": "sg:person.01130402177.97",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01130402177.97"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA",
"id": "http://www.grid.ac/institutes/grid.32224.35",
"name": [
"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
"Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA",
"Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Fu",
"givenName": "Jack",
"id": "sg:person.013450057475.24",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013450057475.24"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA",
"id": "http://www.grid.ac/institutes/grid.32224.35",
"name": [
"Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
"Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA",
"Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA",
"Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA"
],
"type": "Organization"
},
"familyName": "Talkowski",
"givenName": "Michael E.",
"id": "sg:person.0763255745.69",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0763255745.69"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Reichenberg",
"givenName": "Abraham",
"id": "sg:person.07771027574.44",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07771027574.44"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden",
"id": "http://www.grid.ac/institutes/grid.4714.6",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden"
],
"type": "Organization"
},
"familyName": "Sandin",
"givenName": "Sven",
"id": "sg:person.0641615405.18",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0641615405.18"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden",
"id": "http://www.grid.ac/institutes/grid.4714.6",
"name": [
"Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden"
],
"type": "Organization"
},
"familyName": "Hultman",
"givenName": "Christina M.",
"id": "sg:person.01322626065.72",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01322626065.72"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA"
],
"type": "Organization"
},
"familyName": "Grice",
"givenName": "Dorothy E.",
"id": "sg:person.01251377516.86",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01251377516.86"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA",
"id": "http://www.grid.ac/institutes/grid.147455.6",
"name": [
"Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA"
],
"type": "Organization"
},
"familyName": "Roeder",
"givenName": "Kathryn",
"id": "sg:person.07620764017.88",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07620764017.88"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA",
"id": "http://www.grid.ac/institutes/grid.21925.3d",
"name": [
"Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA"
],
"type": "Organization"
},
"familyName": "Devlin",
"givenName": "Bernie",
"id": "sg:person.01223172767.21",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01223172767.21"
],
"type": "Person"
},
{
"affiliation": {
"alternateName": "Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"id": "http://www.grid.ac/institutes/grid.59734.3c",
"name": [
"Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, 10029, New York, NY, USA",
"Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA",
"Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA",
"Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY, USA"
],
"type": "Organization"
},
"familyName": "Buxbaum",
"givenName": "Joseph D.",
"id": "sg:person.01160234271.56",
"sameAs": [
"https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01160234271.56"
],
"type": "Person"
}
],
"citation": [
{
"id": "sg:pub.10.1038/ng.3638",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003764734",
"https://doi.org/10.1038/ng.3638"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nbt.1852",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1026037539",
"https://doi.org/10.1038/nbt.1852"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13073-021-00841-x",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1135746835",
"https://doi.org/10.1186/s13073-021-00841-x"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3092",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1003197881",
"https://doi.org/10.1038/ng.3092"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41398-019-0599-y",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1121882691",
"https://doi.org/10.1038/s41398-019-0599-y"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1007/s00127-019-01822-7",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1123862379",
"https://doi.org/10.1007/s00127-019-01822-7"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/mp.2012.138",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1044963448",
"https://doi.org/10.1038/mp.2012.138"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41436-019-0610-2",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1118144895",
"https://doi.org/10.1038/s41436-019-0610-2"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/ng.3039",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1049367896",
"https://doi.org/10.1038/ng.3039"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2015.30",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1022229472",
"https://doi.org/10.1038/gim.2015.30"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature21062",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1074194641",
"https://doi.org/10.1038/nature21062"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41593-019-0527-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1122863003",
"https://doi.org/10.1038/s41593-019-0527-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41467-019-10016-3",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1116033477",
"https://doi.org/10.1038/s41467-019-10016-3"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/2040-2392-4-17",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1030578974",
"https://doi.org/10.1186/2040-2392-4-17"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/nature09146",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1012902412",
"https://doi.org/10.1038/nature09146"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/s41436-019-0686-8",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1122334748",
"https://doi.org/10.1038/s41436-019-0686-8"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1186/s13039-020-00489-z",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1128385890",
"https://doi.org/10.1186/s13039-020-00489-z"
],
"type": "CreativeWork"
},
{
"id": "sg:pub.10.1038/gim.2013.32",
"sameAs": [
"https://app.dimensions.ai/details/publication/pub.1009144056",
"https://doi.org/10.1038/gim.2013.32"
],
"type": "CreativeWork"
}
],
"datePublished": "2021-10-06",
"datePublishedReg": "2021-10-06",
"description": "BackgroundThe Autism Sequencing Consortium identified 102 high-confidence autism spectrum disorder (ASD) genes, showing that individuals with ASD and with potentially damaging single nucleotide variation (pdSNV) in these genes had lower cognitive levels and delayed age at walking, when compared to ASD participants without pdSNV. Here, we made use of a Swedish sample of individuals with ASD (called PAGES, for Population-Based Autism Genetics & Environment Study) to evaluate the frequency of pdSNV and their impact on medical and psychiatric phenotypes, using an epidemiological frame and universal health reporting. We then combine findings with those for potentially damaging copy number variation (pdCNV).MethodsSNV and CNV calls were generated from whole-exome sequencing and chromosome microarray data, respectively. Birth and medical register data were used to collect phenotypes.ResultsOf 808 individuals assessed by sequencing, 69 (9%) had pdSNV in the 102 ASC genes, and 144 (18%) had pdSNV in the 102\u00a0ASC genes or in a larger set of curated neurodevelopmental genes (from the Deciphering Developmental Disorders study, the\u00a0gene2phenotype database, and the Radboud University gene lists). Three or more individuals had pdSNV in GRIN2B, POGZ, SATB1, DYNC1H1, SCN8A, or CREBBP. In comparison, out of the 996 individuals from whom CNV were called, 105 (11%) carried one or more pdCNV, including four or more individuals with CNV in the recurrent 15q11q13, 22q11.2, and 16p11.2 loci. Carriers of pdSNV were more likely to have intellectual disability (ID) and epilepsy, while carriers of pdCNV showed increased rates of congenital anomalies and scholastic skill disorders. Carriers of either pdSNV or pdCNV were more likely to have ID, scholastic skill disorders, and epilepsy.LimitationsThe cohort only included individuals with autistic disorder, the more severe form of ASD, and phenotypes are defined from medical registers. Not all genes studied are definitively ASD genes, and we did not have de novo information to aid in classification.ConclusionsIn this epidemiological sample, rare pdSNV were more common than pdCNV and the combined yield of potentially damaging variation was substantial at 27%. The results provide compelling rationale for the use of high-throughout sequencing as part of routine clinical\u00a0workup for ASD and support the development of precision medicine in ASD.",
"genre": "article",
"id": "sg:pub.10.1186/s13229-021-00465-3",
"inLanguage": "en",
"isAccessibleForFree": true,
"isFundedItemOf": [
{
"id": "sg:grant.6664159",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6664363",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.2636054",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6618475",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.6664209",
"type": "MonetaryGrant"
},
{
"id": "sg:grant.3625459",
"type": "MonetaryGrant"
}
],
"isPartOf": [
{
"id": "sg:journal.1043709",
"issn": [
"2040-2392"
],
"name": "Molecular Autism",
"publisher": "Springer Nature",
"type": "Periodical"
},
{
"issueNumber": "1",
"type": "PublicationIssue"
},
{
"type": "PublicationVolume",
"volumeNumber": "12"
}
],
"keywords": [
"ASC gene",
"autism spectrum disorder genes",
"high-throughout sequencing",
"Autism Sequencing Consortium",
"single nucleotide variations",
"copy number variations",
"damaging variation",
"Sequencing Consortium",
"nucleotide variations",
"phenotypic impact",
"ASD genes",
"neurodevelopmental genes",
"disorder genes",
"whole-exome sequencing",
"damaging variants",
"genes",
"microarray data",
"number variations",
"intellectual disability",
"more individuals",
"phenotype",
"CNV calls",
"psychiatric phenotypes",
"sequencing",
"congenital anomalies",
"severe form",
"medical register data",
"CNVs",
"medical registers",
"health reporting",
"epidemiological sample",
"disorders",
"precision medicine",
"autistic disorder",
"loci",
"epilepsy",
"SATB1",
"POGZ",
"compelling rationale",
"DYNC1H1",
"CREBBP",
"register data",
"autism spectrum disorder",
"spectrum disorder",
"GRIN2B",
"SCN8A",
"variation",
"individuals",
"Swedish sample",
"ASD",
"large set",
"cohort",
"workup",
"variants",
"prevalence",
"consortium",
"birth",
"age",
"ASD participants",
"disability",
"ConclusionsIn",
"Register",
"medicine",
"participants",
"lower cognitive levels",
"findings",
"carriers",
"use",
"yield",
"reporting",
"cognitive level",
"rationale",
"frame",
"samples",
"development",
"levels",
"data",
"impact",
"rate",
"combined yield",
"form",
"anomalies",
"frequency",
"part",
"classification",
"comparison",
"information",
"set",
"results",
"calls"
],
"name": "Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder",
"pagination": "65",
"productId": [
{
"name": "dimensions_id",
"type": "PropertyValue",
"value": [
"pub.1141685136"
]
},
{
"name": "doi",
"type": "PropertyValue",
"value": [
"10.1186/s13229-021-00465-3"
]
},
{
"name": "pubmed_id",
"type": "PropertyValue",
"value": [
"34615535"
]
}
],
"sameAs": [
"https://doi.org/10.1186/s13229-021-00465-3",
"https://app.dimensions.ai/details/publication/pub.1141685136"
],
"sdDataset": "articles",
"sdDatePublished": "2022-05-20T07:38",
"sdLicense": "https://scigraph.springernature.com/explorer/license/",
"sdPublisher": {
"name": "Springer Nature - SN SciGraph project",
"type": "Organization"
},
"sdSource": "s3://com-springernature-scigraph/baseset/20220519/entities/gbq_results/article/article_886.jsonl",
"type": "ScholarlyArticle",
"url": "https://doi.org/10.1186/s13229-021-00465-3"
}
]Download the RDF metadata as: json-ld nt turtle xml License info
JSON-LD is a popular format for linked data which is fully compatible with JSON.
curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3'
N-Triples is a line-based linked data format ideal for batch operations.
curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3'
Turtle is a human-readable linked data format.
curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3'
RDF/XML is a standard XML format for linked data.
curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13229-021-00465-3'
This table displays all metadata directly associated to this object as RDF triples.
398 TRIPLES
22 PREDICATES
142 URIs
116 LITERALS
15 BLANK NODES