Dysmorphology in a Genomic Era.

Abnormalities, Multiple / diagnosis Diagnosis, Differential Genetic Counseling Genetic Testing Genetic Variation Genetics, Medical / methods Genome, Human Genomics / methods Genotype Humans Infant, Newborn Neonatal Screening Phenotype Terminology as Topic
Dysmorphology HPO Phenotype

Journal

Clinics in perinatology
ISSN: 1557-9840
Titre abrégé: Clin Perinatol
Pays: United States
ID NLM: 7501306

Informations de publication

Date de publication:
03 2020
Historique:
entrez: 1 2 2020
pubmed: 1 2 2020
medline: 18 8 2021
Statut: ppublish

Résumé

Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologic developmental implications of abnormal gene signaling pathways to the resultant phenotypic presentation. Machine learning has enabled the application of deep convoluted neural networks to recognize the comparative likeness of these phenotypes relative to the causal genotype or disrupted gene pathway.

Identifiants

DOI: 10.1016/j.clp.2019.10.009 PMID: 32000922
pubmed: 32000922
pii: S0095-5108(19)30139-3
doi: 10.1016/j.clp.2019.10.009
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

15-23

Informations de copyright

Copyright © 2019 Elsevier Inc. All rights reserved.

Déclaration de conflit d'intérêts

Disclosure D. Basel is an unpaid member of the FDNA Scientific Advisory Board.

Auteurs

Donald Basel (D)

Department of Pediatrics, Division of Genetics, Medical College of Wisconsin, 9000 West Wisconsin Avenue, MS #716, Milwaukee, WI 53226, USA. Electronic address: dbasel@mcw.edu.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Malformations › Malformations multiples › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Diagnostic › Diagnostic différentiel › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de génétique › Conseil génétique › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Établissements, main d'oeuvre et services de soins de santé › Services de santé › Services de médecine préventive › Services de diagnostic › Dépistage génétique › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Professions de santé › Médecine › Génétique médicale › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Génome humain › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Disciplines des sciences naturelles › Disciplines des sciences biologiques › Biologie › Génétique › Génomique › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Phénomènes génétiques › Génotype › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Nouveau-né › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Environnement et santé publique › Santé publique › Pratiques en santé publique › Dépistage de masse › Dépistage néonatal › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Dysmorphology in a Genomic Era.
questionsmedicales.fr › Sciences de l'information › Langage › Linguistique › Terminologie comme sujet › Dysmorphology in a Genomic Era.