Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-05-29

AUTHORS

Hiroyuki Mishima, Hisato Suzuki, Michiko Doi, Mutsuko Miyazaki, Satoshi Watanabe, Tadashi Matsumoto, Kanako Morifuji, Hiroyuki Moriuchi, Koh-ichiro Yoshiura, Tatsuro Kondoh, Kenjiro Kosaki

ABSTRACT

An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes the aggregation of “gestalt,” comprising data summarizing features of patients’ facial images, to suggest candidate syndromes. Because Face2Gene’s results may be affected by ethnicity and age at which training facial images were taken, the system performance for patients in Japan is still unclear. Here, we present an evaluation of Face2Gene using the following two patient groups recruited in Japan: Group 1 consisting of 74 patients with 47 congenital dysmorphic syndromes, and Group 2 consisting of 34 patients with Down syndrome. In Group 1, facial recognition failed for 4 of 74 patients, while 13–21 of 70 patients had a diagnosis for which Face2Gene had not been trained. Omitting these 21 patients, for 85.7% (42/49) of the remainder, the correct syndrome was identified within the top 10 suggested list. In Group 2, for the youngest facial images taken for each of the 34 patients, Down syndrome was successfully identified as the highest-ranking condition using images taken from newborns to those aged 25 years. For the oldest facial images taken at ≥20 years in each of 17 applicable patients, Down syndrome was successfully identified as the highest- and second-highest-ranking condition in 82.2% (14/17) and 100% (17/17) of the patients using images taken from 20 to 40 years. These results suggest that Face2Gene in its current format is already useful in suggesting candidate syndromes to clinical geneticists, using patients with congenital dysmorphic syndromes in Japan. More... »

PAGES

789-794

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s10038-019-0619-z

DOI

http://dx.doi.org/10.1038/s10038-019-0619-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1115975299

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/31138847


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

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/2008/1109", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Neurosciences", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adolescent", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Adult", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Biometric Identification", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Child, Preschool", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Craniofacial Abnormalities", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Diagnostic Imaging", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Facies", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Female", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Genetic Diseases, Inborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Humans", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Image Processing, Computer-Assisted", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Infant, Newborn", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Japan", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Male", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Phenotype", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Sensitivity and Specificity", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Software", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Syndrome", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Workflow", 
        "type": "DefinedTerm"
      }, 
      {
        "inDefinedTermSet": "https://www.nlm.nih.gov/mesh/", 
        "name": "Young Adult", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mishima", 
        "givenName": "Hiroyuki", 
        "id": "sg:person.0643355356.48", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643355356.48"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.26091.3c", 
          "name": [
            "Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Suzuki", 
        "givenName": "Hisato", 
        "id": "sg:person.015160216327.85", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015160216327.85"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.411873.8", 
          "name": [
            "Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Doi", 
        "givenName": "Michiko", 
        "id": "sg:person.012212560244.61", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012212560244.61"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Nagasaki Prefectural Children Medical Welfare Center, Isahaya, Japan", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Department of Pediatrics, Nagasaki Prefectural Children Medical Welfare Center, Isahaya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyazaki", 
        "givenName": "Mutsuko", 
        "id": "sg:person.013605521244.49", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013605521244.49"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Watanabe", 
        "givenName": "Satoshi", 
        "id": "sg:person.01116536116.99", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116536116.99"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsumoto", 
        "givenName": "Tadashi", 
        "id": "sg:person.016202006142.55", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016202006142.55"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Nursing, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Nursing, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Morifuji", 
        "givenName": "Kanako", 
        "id": "sg:person.010115110651.27", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010115110651.27"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Moriuchi", 
        "givenName": "Hiroyuki", 
        "id": "sg:person.0646074221.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646074221.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan", 
          "id": "http://www.grid.ac/institutes/grid.174567.6", 
          "name": [
            "Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Yoshiura", 
        "givenName": "Koh-ichiro", 
        "id": "sg:person.01304011603.19", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304011603.19"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kondoh", 
        "givenName": "Tatsuro", 
        "id": "sg:person.0664024466.84", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664024466.84"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan", 
          "id": "http://www.grid.ac/institutes/grid.26091.3c", 
          "name": [
            "Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kosaki", 
        "givenName": "Kenjiro", 
        "id": "sg:person.0664742344.06", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664742344.06"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1007/s10545-018-0174-3", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1103162135", 
          "https://doi.org/10.1007/s10545-018-0174-3"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/s41591-018-0279-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1110584129", 
          "https://doi.org/10.1038/s41591-018-0279-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nprot.2015.124", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028426805", 
          "https://doi.org/10.1038/nprot.2015.124"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/s13073-017-0510-5", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1100220678", 
          "https://doi.org/10.1186/s13073-017-0510-5"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-05-29", 
    "datePublishedReg": "2019-05-29", 
    "description": "An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes the aggregation of \u201cgestalt,\u201d comprising data summarizing features of patients\u2019 facial images, to suggest candidate syndromes. Because Face2Gene\u2019s results may be affected by ethnicity and age at which training facial images were taken, the system performance for patients in Japan is still unclear. Here, we present an evaluation of Face2Gene using the following two patient groups recruited in Japan: Group 1 consisting of 74 patients with 47 congenital dysmorphic syndromes, and Group 2 consisting of 34 patients with Down syndrome. In Group 1, facial recognition failed for 4 of 74 patients, while 13\u201321 of 70 patients had a diagnosis for which Face2Gene had not been trained. Omitting these 21 patients, for 85.7% (42/49) of the remainder, the correct syndrome was identified within the top 10 suggested list. In Group 2, for the youngest facial images taken for each of the 34 patients, Down syndrome was successfully identified as the highest-ranking condition using images taken from newborns to those aged 25 years. For the oldest facial images taken at \u226520 years in each of 17 applicable patients, Down syndrome was successfully identified as the highest- and second-highest-ranking condition in 82.2% (14/17) and 100% (17/17) of the patients using images taken from 20 to 40 years. These results suggest that Face2Gene in its current format is already useful in suggesting candidate syndromes to clinical geneticists, using patients with congenital dysmorphic syndromes in Japan.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/s10038-019-0619-z", 
    "inLanguage": "en", 
    "isAccessibleForFree": false, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.6536563", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7853214", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6837725", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.8533798", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7701290", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5925802", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.7534680", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6460818", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.5557770", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1294984", 
        "issn": [
          "1434-5161", 
          "1435-232X"
        ], 
        "name": "Journal of Human Genetics", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "8", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "64"
      }
    ], 
    "keywords": [
      "group 2", 
      "group 1", 
      "dysmorphic syndromes", 
      "clinical geneticists", 
      "patients' facial images", 
      "patient group", 
      "applicable patients", 
      "patients", 
      "syndrome", 
      "Down syndrome", 
      "genetic syndromes", 
      "correct syndrome", 
      "Face2Gene", 
      "years", 
      "current format", 
      "newborns", 
      "diagnosis", 
      "age", 
      "evaluation", 
      "ethnicity", 
      "group", 
      "geneticists", 
      "Japan", 
      "remainder", 
      "results", 
      "list", 
      "number", 
      "conditions", 
      "features", 
      "challenges", 
      "recognition", 
      "images", 
      "aggregation", 
      "gestalt", 
      "system", 
      "format", 
      "facial recognition", 
      "performance", 
      "facial images", 
      "assistance systems", 
      "system performance"
    ], 
    "name": "Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan", 
    "pagination": "789-794", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1115975299"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/s10038-019-0619-z"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "31138847"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/s10038-019-0619-z", 
      "https://app.dimensions.ai/details/publication/pub.1115975299"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2022-05-20T07:36", 
    "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_814.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/s10038-019-0619-z"
  }
]
 

Download the RDF metadata as:  json-ld nt turtle xml License info

HOW TO GET THIS DATA PROGRAMMATICALLY:

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.10.1038/s10038-019-0619-z'

N-Triples is a line-based linked data format ideal for batch operations.

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0619-z'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0619-z'

RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/s10038-019-0619-z'


 

This table displays all metadata directly associated to this object as RDF triples.

310 TRIPLES      22 PREDICATES      93 URIs      81 LITERALS      29 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/s10038-019-0619-z schema:about N0cb5b902d48c4b2f9a2710562b8db058
2 N19d92418d62d4fe79042904257a41e83
3 N22a12749997e41b48ddf35f0bbd93cb3
4 N255ba1aa946646febcbb0013dfebe5ee
5 N2abb069306964292a76524ca53bb0a20
6 N38ec7040e259409ab1226fe8ce37f37b
7 N39a12d30c6f041f1b68b2d00ac5f80bf
8 N50406119b65548a79aa3115832d6de5b
9 N5cdebcfaa97646118d60b468c3f86588
10 N60612f78ef6f420d826aa88fb694f833
11 N6bce33068803457b9cc9c641ca3b442f
12 N6ea93fe61f4e4d6da8f10c09f2170403
13 N82989eb7c7cc44d58cc02e091e2382cd
14 N894d3ee13bfc46d2988dad8c8594c91e
15 N8c5ddc93b24a4c92999d9fc015d5209a
16 N97c0763d689b4139a341b501a041b411
17 N97db6e6bbb60427c95fde9bf378381d5
18 Na4d824f06ba54a5087a376e56f1dc26f
19 Nbbc51835eec84727920b78d5ae2a6923
20 Nbcba532a13394eddb1ee9068bd6b925a
21 Nbd1edf59d2a84b118e3147089c64291a
22 Nd0216bba446d4dfb9f4584d9d39f4379
23 anzsrc-for:11
24 anzsrc-for:1109
25 schema:author N5c6113f427e74fd5a0dd8d141188f305
26 schema:citation sg:pub.10.1007/s10545-018-0174-3
27 sg:pub.10.1038/nprot.2015.124
28 sg:pub.10.1038/s41591-018-0279-0
29 sg:pub.10.1186/s13073-017-0510-5
30 schema:datePublished 2019-05-29
31 schema:datePublishedReg 2019-05-29
32 schema:description An increasing number of genetic syndromes present a challenge to clinical geneticists. A deep learning-based diagnosis assistance system, Face2Gene, utilizes the aggregation of “gestalt,” comprising data summarizing features of patients’ facial images, to suggest candidate syndromes. Because Face2Gene’s results may be affected by ethnicity and age at which training facial images were taken, the system performance for patients in Japan is still unclear. Here, we present an evaluation of Face2Gene using the following two patient groups recruited in Japan: Group 1 consisting of 74 patients with 47 congenital dysmorphic syndromes, and Group 2 consisting of 34 patients with Down syndrome. In Group 1, facial recognition failed for 4 of 74 patients, while 13–21 of 70 patients had a diagnosis for which Face2Gene had not been trained. Omitting these 21 patients, for 85.7% (42/49) of the remainder, the correct syndrome was identified within the top 10 suggested list. In Group 2, for the youngest facial images taken for each of the 34 patients, Down syndrome was successfully identified as the highest-ranking condition using images taken from newborns to those aged 25 years. For the oldest facial images taken at ≥20 years in each of 17 applicable patients, Down syndrome was successfully identified as the highest- and second-highest-ranking condition in 82.2% (14/17) and 100% (17/17) of the patients using images taken from 20 to 40 years. These results suggest that Face2Gene in its current format is already useful in suggesting candidate syndromes to clinical geneticists, using patients with congenital dysmorphic syndromes in Japan.
33 schema:genre article
34 schema:inLanguage en
35 schema:isAccessibleForFree false
36 schema:isPartOf N732e4e51121945aba3567ef1c82814b3
37 Nf44a218f522a423688bf4d82e5b30871
38 sg:journal.1294984
39 schema:keywords Down syndrome
40 Face2Gene
41 Japan
42 age
43 aggregation
44 applicable patients
45 assistance systems
46 challenges
47 clinical geneticists
48 conditions
49 correct syndrome
50 current format
51 diagnosis
52 dysmorphic syndromes
53 ethnicity
54 evaluation
55 facial images
56 facial recognition
57 features
58 format
59 genetic syndromes
60 geneticists
61 gestalt
62 group
63 group 1
64 group 2
65 images
66 list
67 newborns
68 number
69 patient group
70 patients
71 patients' facial images
72 performance
73 recognition
74 remainder
75 results
76 syndrome
77 system
78 system performance
79 years
80 schema:name Evaluation of Face2Gene using facial images of patients with congenital dysmorphic syndromes recruited in Japan
81 schema:pagination 789-794
82 schema:productId N58ac7c32811d43ecaaa98d63784b741a
83 N6c0b63a00ea44c19aed4f0752b00091a
84 N9b30eb73a4994768bca8a3be04b40567
85 schema:sameAs https://app.dimensions.ai/details/publication/pub.1115975299
86 https://doi.org/10.1038/s10038-019-0619-z
87 schema:sdDatePublished 2022-05-20T07:36
88 schema:sdLicense https://scigraph.springernature.com/explorer/license/
89 schema:sdPublisher N41ce3418c3d741939794b677c18ca370
90 schema:url https://doi.org/10.1038/s10038-019-0619-z
91 sgo:license sg:explorer/license/
92 sgo:sdDataset articles
93 rdf:type schema:ScholarlyArticle
94 N089626153a404710b5c094df8ae52e0f rdf:first sg:person.013605521244.49
95 rdf:rest N35190c629f7b4480bdb8298d36785dcf
96 N0cb5b902d48c4b2f9a2710562b8db058 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
97 schema:name Image Processing, Computer-Assisted
98 rdf:type schema:DefinedTerm
99 N19d92418d62d4fe79042904257a41e83 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
100 schema:name Syndrome
101 rdf:type schema:DefinedTerm
102 N22014e49c3974d03871522324c3b5a58 rdf:first sg:person.016202006142.55
103 rdf:rest Nd99c41c88c6d4b0f860e339c18b18819
104 N22a12749997e41b48ddf35f0bbd93cb3 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
105 schema:name Sensitivity and Specificity
106 rdf:type schema:DefinedTerm
107 N255ba1aa946646febcbb0013dfebe5ee schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
108 schema:name Phenotype
109 rdf:type schema:DefinedTerm
110 N2abb069306964292a76524ca53bb0a20 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
111 schema:name Software
112 rdf:type schema:DefinedTerm
113 N35190c629f7b4480bdb8298d36785dcf rdf:first sg:person.01116536116.99
114 rdf:rest N22014e49c3974d03871522324c3b5a58
115 N371d458eda564601a5f7b3d8341a6e1a rdf:first sg:person.0664742344.06
116 rdf:rest rdf:nil
117 N38ec7040e259409ab1226fe8ce37f37b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
118 schema:name Japan
119 rdf:type schema:DefinedTerm
120 N39a12d30c6f041f1b68b2d00ac5f80bf schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
121 schema:name Child, Preschool
122 rdf:type schema:DefinedTerm
123 N41ce3418c3d741939794b677c18ca370 schema:name Springer Nature - SN SciGraph project
124 rdf:type schema:Organization
125 N4a5ae3c13d254bb3957e438c033df360 rdf:first sg:person.0646074221.31
126 rdf:rest N8760c1ba4408432dbb1f844092d4996f
127 N50406119b65548a79aa3115832d6de5b schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
128 schema:name Biometric Identification
129 rdf:type schema:DefinedTerm
130 N58ac7c32811d43ecaaa98d63784b741a schema:name doi
131 schema:value 10.1038/s10038-019-0619-z
132 rdf:type schema:PropertyValue
133 N5c6113f427e74fd5a0dd8d141188f305 rdf:first sg:person.0643355356.48
134 rdf:rest N9ff0487d3dc241f2a454b62b0b95c0fc
135 N5cdebcfaa97646118d60b468c3f86588 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
136 schema:name Adolescent
137 rdf:type schema:DefinedTerm
138 N60612f78ef6f420d826aa88fb694f833 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
139 schema:name Infant, Newborn
140 rdf:type schema:DefinedTerm
141 N6bce33068803457b9cc9c641ca3b442f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
142 schema:name Child
143 rdf:type schema:DefinedTerm
144 N6c0b63a00ea44c19aed4f0752b00091a schema:name dimensions_id
145 schema:value pub.1115975299
146 rdf:type schema:PropertyValue
147 N6ea93fe61f4e4d6da8f10c09f2170403 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
148 schema:name Humans
149 rdf:type schema:DefinedTerm
150 N71eaa82836ff4487ad357df956bbc042 rdf:first sg:person.012212560244.61
151 rdf:rest N089626153a404710b5c094df8ae52e0f
152 N732e4e51121945aba3567ef1c82814b3 schema:volumeNumber 64
153 rdf:type schema:PublicationVolume
154 N82989eb7c7cc44d58cc02e091e2382cd schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
155 schema:name Workflow
156 rdf:type schema:DefinedTerm
157 N8760c1ba4408432dbb1f844092d4996f rdf:first sg:person.01304011603.19
158 rdf:rest Nf9999f8d60f04172b83524cbd4d9b818
159 N894d3ee13bfc46d2988dad8c8594c91e schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
160 schema:name Female
161 rdf:type schema:DefinedTerm
162 N8c5ddc93b24a4c92999d9fc015d5209a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
163 schema:name Facies
164 rdf:type schema:DefinedTerm
165 N97c0763d689b4139a341b501a041b411 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
166 schema:name Craniofacial Abnormalities
167 rdf:type schema:DefinedTerm
168 N97db6e6bbb60427c95fde9bf378381d5 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
169 schema:name Infant
170 rdf:type schema:DefinedTerm
171 N9b30eb73a4994768bca8a3be04b40567 schema:name pubmed_id
172 schema:value 31138847
173 rdf:type schema:PropertyValue
174 N9ff0487d3dc241f2a454b62b0b95c0fc rdf:first sg:person.015160216327.85
175 rdf:rest N71eaa82836ff4487ad357df956bbc042
176 Na4d824f06ba54a5087a376e56f1dc26f schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
177 schema:name Adult
178 rdf:type schema:DefinedTerm
179 Nbbc51835eec84727920b78d5ae2a6923 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
180 schema:name Young Adult
181 rdf:type schema:DefinedTerm
182 Nbcba532a13394eddb1ee9068bd6b925a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
183 schema:name Diagnostic Imaging
184 rdf:type schema:DefinedTerm
185 Nbd1edf59d2a84b118e3147089c64291a schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
186 schema:name Male
187 rdf:type schema:DefinedTerm
188 Nd0216bba446d4dfb9f4584d9d39f4379 schema:inDefinedTermSet https://www.nlm.nih.gov/mesh/
189 schema:name Genetic Diseases, Inborn
190 rdf:type schema:DefinedTerm
191 Nd99c41c88c6d4b0f860e339c18b18819 rdf:first sg:person.010115110651.27
192 rdf:rest N4a5ae3c13d254bb3957e438c033df360
193 Nf44a218f522a423688bf4d82e5b30871 schema:issueNumber 8
194 rdf:type schema:PublicationIssue
195 Nf9999f8d60f04172b83524cbd4d9b818 rdf:first sg:person.0664024466.84
196 rdf:rest N371d458eda564601a5f7b3d8341a6e1a
197 anzsrc-for:11 schema:inDefinedTermSet anzsrc-for:
198 schema:name Medical and Health Sciences
199 rdf:type schema:DefinedTerm
200 anzsrc-for:1109 schema:inDefinedTermSet anzsrc-for:
201 schema:name Neurosciences
202 rdf:type schema:DefinedTerm
203 sg:grant.5557770 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
204 rdf:type schema:MonetaryGrant
205 sg:grant.5925802 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
206 rdf:type schema:MonetaryGrant
207 sg:grant.6460818 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
208 rdf:type schema:MonetaryGrant
209 sg:grant.6536563 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
210 rdf:type schema:MonetaryGrant
211 sg:grant.6837725 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
212 rdf:type schema:MonetaryGrant
213 sg:grant.7534680 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
214 rdf:type schema:MonetaryGrant
215 sg:grant.7701290 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
216 rdf:type schema:MonetaryGrant
217 sg:grant.7853214 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
218 rdf:type schema:MonetaryGrant
219 sg:grant.8533798 http://pending.schema.org/fundedItem sg:pub.10.1038/s10038-019-0619-z
220 rdf:type schema:MonetaryGrant
221 sg:journal.1294984 schema:issn 1434-5161
222 1435-232X
223 schema:name Journal of Human Genetics
224 schema:publisher Springer Nature
225 rdf:type schema:Periodical
226 sg:person.010115110651.27 schema:affiliation grid-institutes:grid.174567.6
227 schema:familyName Morifuji
228 schema:givenName Kanako
229 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.010115110651.27
230 rdf:type schema:Person
231 sg:person.01116536116.99 schema:affiliation grid-institutes:grid.174567.6
232 schema:familyName Watanabe
233 schema:givenName Satoshi
234 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01116536116.99
235 rdf:type schema:Person
236 sg:person.012212560244.61 schema:affiliation grid-institutes:grid.411873.8
237 schema:familyName Doi
238 schema:givenName Michiko
239 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.012212560244.61
240 rdf:type schema:Person
241 sg:person.01304011603.19 schema:affiliation grid-institutes:grid.174567.6
242 schema:familyName Yoshiura
243 schema:givenName Koh-ichiro
244 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01304011603.19
245 rdf:type schema:Person
246 sg:person.013605521244.49 schema:affiliation grid-institutes:None
247 schema:familyName Miyazaki
248 schema:givenName Mutsuko
249 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.013605521244.49
250 rdf:type schema:Person
251 sg:person.015160216327.85 schema:affiliation grid-institutes:grid.26091.3c
252 schema:familyName Suzuki
253 schema:givenName Hisato
254 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.015160216327.85
255 rdf:type schema:Person
256 sg:person.016202006142.55 schema:affiliation grid-institutes:None
257 schema:familyName Matsumoto
258 schema:givenName Tadashi
259 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.016202006142.55
260 rdf:type schema:Person
261 sg:person.0643355356.48 schema:affiliation grid-institutes:grid.174567.6
262 schema:familyName Mishima
263 schema:givenName Hiroyuki
264 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0643355356.48
265 rdf:type schema:Person
266 sg:person.0646074221.31 schema:affiliation grid-institutes:grid.174567.6
267 schema:familyName Moriuchi
268 schema:givenName Hiroyuki
269 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0646074221.31
270 rdf:type schema:Person
271 sg:person.0664024466.84 schema:affiliation grid-institutes:None
272 schema:familyName Kondoh
273 schema:givenName Tatsuro
274 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664024466.84
275 rdf:type schema:Person
276 sg:person.0664742344.06 schema:affiliation grid-institutes:grid.26091.3c
277 schema:familyName Kosaki
278 schema:givenName Kenjiro
279 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664742344.06
280 rdf:type schema:Person
281 sg:pub.10.1007/s10545-018-0174-3 schema:sameAs https://app.dimensions.ai/details/publication/pub.1103162135
282 https://doi.org/10.1007/s10545-018-0174-3
283 rdf:type schema:CreativeWork
284 sg:pub.10.1038/nprot.2015.124 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028426805
285 https://doi.org/10.1038/nprot.2015.124
286 rdf:type schema:CreativeWork
287 sg:pub.10.1038/s41591-018-0279-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1110584129
288 https://doi.org/10.1038/s41591-018-0279-0
289 rdf:type schema:CreativeWork
290 sg:pub.10.1186/s13073-017-0510-5 schema:sameAs https://app.dimensions.ai/details/publication/pub.1100220678
291 https://doi.org/10.1186/s13073-017-0510-5
292 rdf:type schema:CreativeWork
293 grid-institutes:None schema:alternateName Department of Pediatrics, Nagasaki Prefectural Children Medical Welfare Center, Isahaya, Japan
294 Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan
295 schema:name Department of Pediatrics, Nagasaki Prefectural Children Medical Welfare Center, Isahaya, Japan
296 Division of Developmental Disabilities, Misakaenosono Mutsumi Developmental, Medical and Welfare Center, Isahaya, Japan
297 rdf:type schema:Organization
298 grid-institutes:grid.174567.6 schema:alternateName Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
299 Department of Nursing, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
300 Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
301 schema:name Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
302 Department of Nursing, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
303 Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
304 rdf:type schema:Organization
305 grid-institutes:grid.26091.3c schema:alternateName Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
306 schema:name Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan
307 rdf:type schema:Organization
308 grid-institutes:grid.411873.8 schema:alternateName Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan
309 schema:name Department of Pediatrics, Nagasaki University Hospital, Nagasaki, Japan
310 rdf:type schema:Organization
 




Preview window. Press ESC to close (or click here)


...