Titre : Australasie

Australasie : Questions médicales fréquentes

Termes MeSH sélectionnés :

DNA Copy Number Variations
{ "@context": "https://schema.org", "@graph": [ { "@type": "MedicalWebPage", "name": "Australasie : Questions médicales les plus fréquentes", "headline": "Australasie : Comprendre les symptômes, diagnostics et traitements", "description": "Guide complet et accessible sur les Australasie : explications, diagnostics, traitements et prévention. Information médicale validée destinée aux patients.", "datePublished": "2024-04-22", "dateModified": "2025-04-17", "inLanguage": "fr", "medicalAudience": [ { "@type": "MedicalAudience", "name": "Grand public", "audienceType": "Patient", "healthCondition": { "@type": "MedicalCondition", "name": "Australasie" }, "suggestedMinAge": 18, "suggestedGender": "unisex" }, { "@type": "MedicalAudience", "name": "Médecins", "audienceType": "Physician", "geographicArea": { "@type": "AdministrativeArea", "name": "France" } }, { "@type": "MedicalAudience", "name": "Chercheurs", "audienceType": "Researcher", "geographicArea": { "@type": "AdministrativeArea", "name": "International" } } ], "reviewedBy": { "@type": "Person", "name": "Dr Olivier Menir", "jobTitle": "Expert en Médecine", "description": "Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale", "url": "/static/pages/docteur-olivier-menir.html", "alumniOf": { "@type": "EducationalOrganization", "name": "Université Paris Descartes" } }, "isPartOf": { "@type": "MedicalWebPage", "name": "Océanie", "url": "https://questionsmedicales.fr/mesh/D044349", "about": { "@type": "MedicalCondition", "name": "Océanie", "code": { "@type": "MedicalCode", "code": "D044349", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678" } } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Australie", "alternateName": "Australia", "url": "https://questionsmedicales.fr/mesh/D001315", "about": { "@type": "MedicalCondition", "name": "Australie", "code": { "@type": "MedicalCode", "code": "D001315", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373" } }, "hasPart": [ { "@type": "MedicalWebPage", "name": "Territoire de la capitale australienne", "alternateName": "Australian Capital Territory", "url": "https://questionsmedicales.fr/mesh/D020958", "about": { "@type": "MedicalCondition", "name": "Territoire de la capitale australienne", "code": { "@type": "MedicalCode", "code": "D020958", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.500" } } }, { "@type": "MedicalWebPage", "name": "Nouvelle-Galles du Sud", "alternateName": "New South Wales", "url": "https://questionsmedicales.fr/mesh/D009517", "about": { "@type": "MedicalCondition", "name": "Nouvelle-Galles du Sud", "code": { "@type": "MedicalCode", "code": "D009517", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.750" } } }, { "@type": "MedicalWebPage", "name": "Territoire du Nord", "alternateName": "Northern Territory", "url": "https://questionsmedicales.fr/mesh/D015876", "about": { "@type": "MedicalCondition", "name": "Territoire du Nord", "code": { "@type": "MedicalCode", "code": "D015876", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.875" } } }, { "@type": "MedicalWebPage", "name": "Queensland", "alternateName": "Queensland", "url": "https://questionsmedicales.fr/mesh/D011793", "about": { "@type": "MedicalCondition", "name": "Queensland", "code": { "@type": "MedicalCode", "code": "D011793", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.937" } } }, { "@type": "MedicalWebPage", "name": "Australie-Méridionale", "alternateName": "South Australia", "url": "https://questionsmedicales.fr/mesh/D013021", "about": { "@type": "MedicalCondition", "name": "Australie-Méridionale", "code": { "@type": "MedicalCode", "code": "D013021", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.968" } } }, { "@type": "MedicalWebPage", "name": "Tasmanie", "alternateName": "Tasmania", "url": "https://questionsmedicales.fr/mesh/D013648", "about": { "@type": "MedicalCondition", "name": "Tasmanie", "code": { "@type": "MedicalCode", "code": "D013648", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.984" } } }, { "@type": "MedicalWebPage", "name": "Victoria", "alternateName": "Victoria", "url": "https://questionsmedicales.fr/mesh/D014739", "about": { "@type": "MedicalCondition", "name": "Victoria", "code": { "@type": "MedicalCode", "code": "D014739", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.992" } } }, { "@type": "MedicalWebPage", "name": "Australie occidentale", "alternateName": "Western Australia", "url": "https://questionsmedicales.fr/mesh/D014904", "about": { "@type": "MedicalCondition", "name": "Australie occidentale", "code": { "@type": "MedicalCode", "code": "D014904", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.373.996" } } } ] }, { "@type": "MedicalWebPage", "name": "Nouvelle-Zélande", "alternateName": "New Zealand", "url": "https://questionsmedicales.fr/mesh/D009520", "about": { "@type": "MedicalCondition", "name": "Nouvelle-Zélande", "code": { "@type": "MedicalCode", "code": "D009520", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.747" } } }, { "@type": "MedicalWebPage", "name": "Iles du Pacifique", "alternateName": "Pacific Islands", "url": "https://questionsmedicales.fr/mesh/D010139", "about": { "@type": "MedicalCondition", "name": "Iles du Pacifique", "code": { "@type": "MedicalCode", "code": "D010139", "codingSystem": "MeSH" }, "identifier": { "@type": "PropertyValue", "propertyID": "MeSH Tree", "value": "Z01.678.100.873" } } } ], "about": { "@type": "MedicalCondition", "name": "Australasie", "alternateName": "Australasia", "code": { "@type": "MedicalCode", "code": "D044362", "codingSystem": "MeSH" } }, "author": [ { "@type": "Person", "name": "None None", "url": "https://questionsmedicales.fr/author/None%20None", "affiliation": { "@type": "Organization", "name": "" } }, { "@type": "Person", "name": "Ainsley J Newson", "url": "https://questionsmedicales.fr/author/Ainsley%20J%20Newson", "affiliation": { "@type": "Organization", "name": "Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, The University of Sydney, Sydney, NSW, Australia." } }, { "@type": "Person", "name": "Thomas Beaney", "url": "https://questionsmedicales.fr/author/Thomas%20Beaney", "affiliation": { "@type": "Organization", "name": "Imperial Clinical Trials Unit, Imperial College London, Stadium House, 68 Wood Lane, London, UK." } }, { "@type": "Person", "name": "Xin Xia", "url": "https://questionsmedicales.fr/author/Xin%20Xia", "affiliation": { "@type": "Organization", "name": "Imperial Clinical Trials Unit, Imperial College London, Stadium House, 68 Wood Lane, London, UK." } }, { "@type": "Person", "name": "Neil R Poulter", "url": "https://questionsmedicales.fr/author/Neil%20R%20Poulter", "affiliation": { "@type": "Organization", "name": "Imperial Clinical Trials Unit, Imperial College London, Stadium House, 68 Wood Lane, London, UK." } } ], "citation": [ { "@type": "ScholarlyArticle", "name": "Mapping recurrent mosaic copy number variation in human neurons.", "datePublished": "2024-05-17", "url": "https://questionsmedicales.fr/article/38760338", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1038/s41467-024-48392-0" } }, { "@type": "ScholarlyArticle", "name": "A pan-cancer landscape of pathogenic somatic copy number variations.", "datePublished": "2023-10-18", "url": "https://questionsmedicales.fr/article/37858853", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1016/j.jbi.2023.104529" } }, { "@type": "ScholarlyArticle", "name": "Copy number variations in SPAST and ATL1 are rare among Brazilians.", "datePublished": "2023-01-15", "url": "https://questionsmedicales.fr/article/36537231", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1111/cge.14280" } }, { "@type": "ScholarlyArticle", "name": "Copy number variation alters local and global mutational tolerance.", "datePublished": "2023-08-31", "url": "https://questionsmedicales.fr/article/37652668", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1101/gr.277625.122" } }, { "@type": "ScholarlyArticle", "name": "Contribution of copy number variations to the risk of severe eating disorders.", "datePublished": "2022-06-20", "url": "https://questionsmedicales.fr/article/35611833", "identifier": { "@type": "PropertyValue", "propertyID": "DOI", "value": "10.1111/pcn.13430" } } ], "breadcrumb": { "@type": "BreadcrumbList", "itemListElement": [ { "@type": "ListItem", "position": 1, "name": "questionsmedicales.fr", "item": "https://questionsmedicales.fr" }, { "@type": "ListItem", "position": 2, "name": "Régions géographiques", "item": "https://questionsmedicales.fr/mesh/D005842" }, { "@type": "ListItem", "position": 3, "name": "Océanie", "item": "https://questionsmedicales.fr/mesh/D044349" }, { "@type": "ListItem", "position": 4, "name": "Australasie", "item": "https://questionsmedicales.fr/mesh/D044362" } ] } }, { "@type": "MedicalWebPage", "name": "Article complet : Australasie - Questions et réponses", "headline": "Questions et réponses médicales fréquentes sur Australasie", "description": "Une compilation de questions et réponses structurées, validées par des experts médicaux.", "datePublished": "2025-05-17", "inLanguage": "fr", "hasPart": [ { "@type": "MedicalWebPage", "name": "Diagnostic", "headline": "Diagnostic sur Australasie", "description": "Comment diagnostiquer une maladie tropicale en Australasie ?\nQuels tests sont utilisés pour le paludisme en Australasie ?\nComment identifier une infection par le virus Zika ?\nQuels sont les signes d'une infection à leptospirose ?\nComment diagnostiquer une maladie de Lyme en Australasie ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-diagnostic" }, { "@type": "MedicalWebPage", "name": "Symptômes", "headline": "Symptômes sur Australasie", "description": "Quels sont les symptômes du chikungunya ?\nComment se manifeste la dengue ?\nQuels signes indiquent une infection par le virus de l'herpès ?\nQuels symptômes d'une intoxication alimentaire ?\nComment reconnaître une infection respiratoire ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-symptômes" }, { "@type": "MedicalWebPage", "name": "Prévention", "headline": "Prévention sur Australasie", "description": "Comment prévenir la dengue en Australasie ?\nQuelles mesures pour éviter le chikungunya ?\nComment se protéger contre le virus Zika ?\nQuelles sont les recommandations pour la leptospirose ?\nComment prévenir les infections respiratoires ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-prévention" }, { "@type": "MedicalWebPage", "name": "Traitements", "headline": "Traitements sur Australasie", "description": "Quels traitements pour la dengue ?\nComment traiter une infection par le virus Zika ?\nQuels médicaments pour le chikungunya ?\nComment traiter une infection à leptospirose ?\nQuels sont les traitements pour la maladie de Lyme ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-traitements" }, { "@type": "MedicalWebPage", "name": "Complications", "headline": "Complications sur Australasie", "description": "Quelles complications peuvent survenir avec la dengue ?\nQuels risques associés au chikungunya ?\nQuelles complications de l'infection par le virus Zika ?\nQuelles complications de la leptospirose ?\nQuels risques de la maladie de Lyme non traitée ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-complications" }, { "@type": "MedicalWebPage", "name": "Facteurs de risque", "headline": "Facteurs de risque sur Australasie", "description": "Quels sont les facteurs de risque pour la dengue ?\nQui est à risque pour le chikungunya ?\nQuels facteurs augmentent le risque de virus Zika ?\nQuels sont les risques associés à la leptospirose ?\nQui est à risque pour la maladie de Lyme ?", "url": "https://questionsmedicales.fr/mesh/D044362?mesh_terms=DNA+Copy+Number+Variations&page=3#section-facteurs de risque" } ] }, { "@type": "FAQPage", "mainEntity": [ { "@type": "Question", "name": "Comment diagnostiquer une maladie tropicale en Australasie ?", "position": 1, "acceptedAnswer": { "@type": "Answer", "text": "Un diagnostic repose sur l'historique médical, les symptômes et des tests de laboratoire." } }, { "@type": "Question", "name": "Quels tests sont utilisés pour le paludisme en Australasie ?", "position": 2, "acceptedAnswer": { "@type": "Answer", "text": "Les tests de diagnostic incluent les frottis sanguins et les tests de dépistage rapide." } }, { "@type": "Question", "name": "Comment identifier une infection par le virus Zika ?", "position": 3, "acceptedAnswer": { "@type": "Answer", "text": "L'infection est confirmée par des tests sanguins spécifiques et l'historique de voyage." } }, { "@type": "Question", "name": "Quels sont les signes d'une infection à leptospirose ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fièvre, douleurs musculaires et éruption cutanée, nécessitant des tests." } }, { "@type": "Question", "name": "Comment diagnostiquer une maladie de Lyme en Australasie ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Le diagnostic repose sur l'exposition aux tiques et des tests sérologiques spécifiques." } }, { "@type": "Question", "name": "Quels sont les symptômes du chikungunya ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent fièvre, douleurs articulaires et éruptions cutanées." } }, { "@type": "Question", "name": "Comment se manifeste la dengue ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "La dengue se manifeste par une forte fièvre, des douleurs corporelles et des éruptions cutanées." } }, { "@type": "Question", "name": "Quels signes indiquent une infection par le virus de l'herpès ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "Les signes incluent des lésions cutanées, des démangeaisons et des douleurs localisées." } }, { "@type": "Question", "name": "Quels symptômes d'une intoxication alimentaire ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent nausées, vomissements, diarrhée et douleurs abdominales." } }, { "@type": "Question", "name": "Comment reconnaître une infection respiratoire ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Les symptômes incluent toux, fièvre, essoufflement et douleurs thoraciques." } }, { "@type": "Question", "name": "Comment prévenir la dengue en Australasie ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Éliminer les eaux stagnantes et utiliser des répulsifs contre les moustiques." } }, { "@type": "Question", "name": "Quelles mesures pour éviter le chikungunya ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Utiliser des moustiquaires et des répulsifs, et éviter les zones infestées." } }, { "@type": "Question", "name": "Comment se protéger contre le virus Zika ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Éviter les piqûres de moustiques et utiliser des préservatifs lors de rapports sexuels." } }, { "@type": "Question", "name": "Quelles sont les recommandations pour la leptospirose ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "Éviter le contact avec des eaux potentiellement contaminées et porter des vêtements de protection." } }, { "@type": "Question", "name": "Comment prévenir les infections respiratoires ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Se laver les mains régulièrement et éviter les contacts avec des personnes malades." } }, { "@type": "Question", "name": "Quels traitements pour la dengue ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement est symptomatique, avec des analgésiques et une hydratation adéquate." } }, { "@type": "Question", "name": "Comment traiter une infection par le virus Zika ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Il n'existe pas de traitement spécifique ; le repos et l'hydratation sont recommandés." } }, { "@type": "Question", "name": "Quels médicaments pour le chikungunya ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Les anti-inflammatoires et les analgésiques sont utilisés pour soulager les symptômes." } }, { "@type": "Question", "name": "Comment traiter une infection à leptospirose ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Le traitement comprend des antibiotiques et un suivi médical pour éviter les complications." } }, { "@type": "Question", "name": "Quels sont les traitements pour la maladie de Lyme ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Les antibiotiques sont le traitement principal, surtout s'ils sont administrés tôt." } }, { "@type": "Question", "name": "Quelles complications peuvent survenir avec la dengue ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent la dengue sévère, pouvant entraîner des hémorragies et un choc." } }, { "@type": "Question", "name": "Quels risques associés au chikungunya ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Des douleurs articulaires chroniques peuvent persister longtemps après l'infection." } }, { "@type": "Question", "name": "Quelles complications de l'infection par le virus Zika ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Le virus peut causer des malformations congénitales si contracté pendant la grossesse." } }, { "@type": "Question", "name": "Quelles complications de la leptospirose ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications incluent des lésions rénales, hépatiques et des hémorragies pulmonaires." } }, { "@type": "Question", "name": "Quels risques de la maladie de Lyme non traitée ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Les complications peuvent inclure des problèmes neurologiques et des douleurs articulaires chroniques." } }, { "@type": "Question", "name": "Quels sont les facteurs de risque pour la dengue ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Les facteurs incluent vivre dans des zones tropicales et avoir des antécédents d'infection." } }, { "@type": "Question", "name": "Qui est à risque pour le chikungunya ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Les personnes âgées et celles avec des maladies chroniques sont plus vulnérables." } }, { "@type": "Question", "name": "Quels facteurs augmentent le risque de virus Zika ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Voyager dans des zones endommagées par le virus et être enceinte augmentent le risque." } }, { "@type": "Question", "name": "Quels sont les risques associés à la leptospirose ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Les personnes travaillant en milieu rural ou en contact avec des eaux contaminées sont à risque." } }, { "@type": "Question", "name": "Qui est à risque pour la maladie de Lyme ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Les personnes vivant dans des zones boisées ou ayant des activités de plein air sont à risque." } } ] } ] }

Sources (10000 au total)

A pan-cancer landscape of pathogenic somatic copy number variations.

Copy number variations (CNVs) play crucial roles in physiological and pathological processes, including cancer. However, the functional implications of somatic CNVs in tumor progression and evolution ... Starting from 7352 copy number profiles across 33 different cancer types, we infer the pathogenicity of each CNV and perform both intra- and inter-tumor analyses to predict the functional impact of di... Our analysis uncovered large heterogeneity among different tumors suggesting in many cases distinct genetic drivers of tumorigenesis. Recurrent genomic alterations frequently coincide with dysfunction... This study contributes to elucidate the functional impact of pathogenic CNVs in tumor progression and sheds light on their potential as prognostic markers in specific cancer types....

Contribution of copy number variations to the risk of severe eating disorders.

Eating disorders (EDs) are complex, multifactorial psychiatric conditions. Previous studies identified pathogenic copy number variations associated with NDDs (NDD-CNVs) in ED patients. However, no sta... Using array comparative genomic hybridization (aCGH), we conducted a high-resolution CNV analysis of 71 severe female ED patients and 1045 female controls. According to the American College of Medical... Of the samples analyzed with aCGH, 70 severe ED patients (98.6%) and 1036 controls (99.1%) passed our quality control filtering. We obtained 189 and 2539 rare CNVs from patients and controls, respecti... Our study provides the first preliminary evidence that NDD-CNVs may confer risk for severe EDs. The pathophysiology may involve synaptic dysfunction....

Prognostic and survival impact of BCL9 and RPS6KB1 copy number variation detected from circulating free DNA in hepatocellular carcinoma.

Circulating cell-free DNA (cfDNA) is a noninvasive substitute to liver biopsy for hepatocellular carcinoma (HCC) molecular profiling. This study aimed to use cfDNA to investigate copy number variation... Real-Time Polymerase Chain Reaction was used to determine the CNV and cfDNA integrity index in 100 HCC patients.... CNV gain in BCL9 and RPS6KB1 genes was detected in 14% and 24% of patients, respectively. Gain in CNV of BCL9 associated with risk of HCC in alcohol drinkers and hepatitis C seropositivity. In patient... cfDNA was used to detect BCL9 and RPS6KB1 CNVs, which influence prognosis and can be used as independent predictors of HCC patient survival....

Multiallelic Copy Number Variation in ORM1 is Associated with Plasma Cell-Free DNA Levels as an Intermediate Phenotype for Venous Thromboembolism.

Venous thromboembolism (VTE) is a common disease with high heritability. However, only a small portion of the genetic variance of VTE can be explained by known genetic risk factors. Neutrophil extrace...

Mitochondrial DNA copy number and risk of papillary thyroid carcinoma.

Mitochondrial DNA (mtDNA) copy number is associated with tumor activity and carcinogenesis. This study was undertaken to investigate mtDNA copy number in papillary thyroid cancer (PTC) tissues and to ... DNA was extracted from 105 PTC tissues and 67 control thyroid tissues, and mtDNA copy number mtDNA oxidative damage were determined using qPCR techniques.... Overall, the relative mtDNA copy number was significantly higher in PTC patients (p < 0.001). The risk of developing PTC increased significantly across the tertiles of mtDNA copy number (p trend < 0.0... Our results indicated that the augmentation of mtDNA content plays a significant role during the initiation of thyroid cancer, and it might represent a potential biomarker for predicting the risk of P...

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.

Considering the essential roles that genetic factors play in azoospermia and oligospermia, this study aims to identify abnormal chromosomes using karyotyping and CNVs and elucidate the associated gene... A total of 1157 azoospermia and oligospermia patients were recruited, of whom, 769 and 674 underwent next-generation sequencing (NGS) to identify CNVs and routine G-band karyotyping, respectively.... First, 286 patients were co-analyzed using CNV sequencing (CNV-seq) and karyotyping. Of the 725 and 432 patients with azoospermia and oligospermia, 33.8% and 48.9% had abnormal karyotypes and CNVs, re... Sex chromosome and autosomal CNV loci, such as Xp22.31 and 2p24.3, as well as the associated genes, such as VCX and NACAP9, could be candidate spermatogenesis genes. The high-frequency abnormal karyot...

dbCNV: deleteriousness-based model to predict pathogenicity of copy number variations.

Copy number variation (CNV) is a type of structural variation, which is a gain or loss event with abnormal changes in copy number. Methods to predict the pathogenicity of CNVs are required to realize ... From single nucleotide polymorphism (SNP), gene and region dimensions, we collected 79 informative features that quantitatively describe the characteristics of CNV, such as CNV length, the number of p... The performance of the dbCNV suggest that functional deleteriousness-based model of CNV is a promising approach to support the classification prediction and to further understand the pathogenic mechan...