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Données de séquences moléculaires
Annotation de séquence moléculaire
Annotation de séquence moléculaire : Questions médicales fréquentes
Termes MeSH sélectionnés :
Diagnostic
5
Bioinformatique
Logiciels
Prédisposition génétique
Maladies héréditaires
Standards
Format de données
Symptômes
5
Mutations silencieuses
Phénotype
Variabilité génétique
Environnement
Prévention
5
Prévention
Risque génétique
Surveillance
Maladies héréditaires
Tests génétiques
Séquençage
Éducation génétique
Sensibilisation
Dépistage
Programmes de santé
Traitements
5
Thérapie ciblée
Personnalisation des traitements
Thérapie génique
Médicaments ciblés
Cibles moléculaires
Efficacité des traitements
Traitements personnalisés
Cas cliniques
Effets secondaires
Profil génétique
Complications
5
Complications
Diagnostic erroné
Réduction des complications
Traitements ciblés
Gestion des complications
Options de traitement
Variabilité
Environnement
Facteurs de risque
5
Facteurs de risque
Antécédents familiaux
Environnement
Expositions
Évaluation
Données cliniques
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"text": "Elle permet d'identifier des gènes ou des mutations associés à des maladies."
}
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{
"@type": "Question",
"name": "Quels outils sont utilisés pour l'annotation ?",
"position": 2,
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}
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"@type": "Question",
"name": "L'annotation peut-elle prédire des maladies ?",
"position": 3,
"acceptedAnswer": {
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"text": "Oui, elle peut aider à prédire des risques génétiques pour certaines maladies."
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"position": 4,
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"position": 5,
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"@type": "Question",
"name": "Quels symptômes peuvent être liés à des mutations génétiques ?",
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"acceptedAnswer": {
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"@type": "Question",
"name": "Comment l'annotation aide-t-elle à comprendre les symptômes ?",
"position": 7,
"acceptedAnswer": {
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"text": "Elle relie les mutations à des phénotypes spécifiques, facilitant la compréhension."
}
},
{
"@type": "Question",
"name": "Les symptômes sont-ils toujours présents avec des mutations ?",
"position": 8,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, certaines mutations peuvent être silencieuses et ne pas provoquer de symptômes."
}
},
{
"@type": "Question",
"name": "Peut-on prédire des symptômes grâce à l'annotation ?",
"position": 9,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, l'annotation peut aider à anticiper des symptômes basés sur des mutations connues."
}
},
{
"@type": "Question",
"name": "Les symptômes varient-ils selon les individus ?",
"position": 10,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, les symptômes peuvent varier en fonction de l'environnement et de la génétique."
}
},
{
"@type": "Question",
"name": "Comment l'annotation aide-t-elle à la prévention ?",
"position": 11,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet d'identifier les individus à risque et de mettre en place des mesures préventives."
}
},
{
"@type": "Question",
"name": "Peut-on prévenir des maladies grâce à l'annotation ?",
"position": 12,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, en surveillant les individus porteurs de mutations à risque."
}
},
{
"@type": "Question",
"name": "Quels tests sont utilisés pour l'annotation préventive ?",
"position": 13,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des tests génétiques comme le séquençage de nouvelle génération sont utilisés."
}
},
{
"@type": "Question",
"name": "L'éducation génétique est-elle importante pour la prévention ?",
"position": 14,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle sensibilise les individus aux risques et aux mesures préventives."
}
},
{
"@type": "Question",
"name": "Les programmes de dépistage sont-ils basés sur l'annotation ?",
"position": 15,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, ils sont souvent conçus en fonction des données d'annotation disponibles."
}
},
{
"@type": "Question",
"name": "L'annotation influence-t-elle les traitements ?",
"position": 16,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle permet de personnaliser les traitements en fonction des mutations spécifiques."
}
},
{
"@type": "Question",
"name": "Quels traitements sont basés sur l'annotation ?",
"position": 17,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements comme les thérapies géniques et les médicaments ciblés en dépendent."
}
},
{
"@type": "Question",
"name": "Comment l'annotation aide-t-elle à choisir un traitement ?",
"position": 18,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle identifie les cibles moléculaires pour des traitements plus efficaces."
}
},
{
"@type": "Question",
"name": "Les traitements sont-ils standardisés selon l'annotation ?",
"position": 19,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, les traitements peuvent varier selon les spécificités de chaque cas."
}
},
{
"@type": "Question",
"name": "L'annotation peut-elle aider à éviter des effets secondaires ?",
"position": 20,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, en choisissant des traitements adaptés aux profils génétiques des patients."
}
},
{
"@type": "Question",
"name": "Quelles complications peuvent survenir sans annotation ?",
"position": 21,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des traitements inappropriés et des diagnostics erronés peuvent survenir."
}
},
{
"@type": "Question",
"name": "L'annotation peut-elle réduire les complications ?",
"position": 22,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, en permettant des traitements plus ciblés et adaptés aux patients."
}
},
{
"@type": "Question",
"name": "Les complications sont-elles prévisibles grâce à l'annotation ?",
"position": 23,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certaines complications peuvent être anticipées en fonction des mutations identifiées."
}
},
{
"@type": "Question",
"name": "Comment l'annotation aide-t-elle à gérer les complications ?",
"position": 24,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle fournit des informations sur les risques et les options de traitement appropriées."
}
},
{
"@type": "Question",
"name": "Les complications varient-elles selon les individus ?",
"position": 25,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elles peuvent varier en fonction de la génétique et de l'environnement."
}
},
{
"@type": "Question",
"name": "Quels facteurs de risque sont identifiés par l'annotation ?",
"position": 26,
"acceptedAnswer": {
"@type": "Answer",
"text": "Des mutations génétiques, des antécédents familiaux et des facteurs environnementaux."
}
},
{
"@type": "Question",
"name": "L'annotation peut-elle identifier des facteurs de risque environnementaux ?",
"position": 27,
"acceptedAnswer": {
"@type": "Answer",
"text": "Oui, elle peut relier des mutations à des expositions environnementales spécifiques."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils modifiables ?",
"position": 28,
"acceptedAnswer": {
"@type": "Answer",
"text": "Certains, comme le mode de vie, peuvent être modifiés pour réduire les risques."
}
},
{
"@type": "Question",
"name": "Comment l'annotation aide-t-elle à évaluer les facteurs de risque ?",
"position": 29,
"acceptedAnswer": {
"@type": "Answer",
"text": "Elle permet d'analyser les données génétiques et cliniques pour une évaluation précise."
}
},
{
"@type": "Question",
"name": "Les facteurs de risque sont-ils les mêmes pour tous ?",
"position": 30,
"acceptedAnswer": {
"@type": "Answer",
"text": "Non, ils varient selon les individus et les populations en fonction de la génétique."
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Expert en Médecine, Optimisation des Parcours de Soins et Révision Médicale
Validation scientifique effectuée le 05/05/2025
Contenu vérifié selon les dernières recommandations médicales
3 publications dans cette catégorie
Publications dans "Annotation de séquence moléculaire" :
3 publications dans cette catégorie
Publications dans "Annotation de séquence moléculaire" :
3 publications dans cette catégorie
Publications dans "Annotation de séquence moléculaire" :
3 publications dans cette catégorie
Affiliations :
Department of Computer Science, University of Montana, Missoula, MT 59812, USA.
Department of Pharmacy Practice and Science, University of Arizona, Tucson, AZ 85721, USA.
Publications dans "Annotation de séquence moléculaire" :
3 publications dans cette catégorie
Affiliations :
Department of Computer Science, University of Montana, Missoula, MT 59812, USA.
Department of Pharmacy Practice and Science, University of Arizona, Tucson, AZ 85721, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Pathogenic Biology and Immunology, School of Basic Medical Sciences, Xi'an Jiaotong University, No.76 Yanta West Road, Xi'an, 710061, China.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Pathogenic Biology and Immunology, School of Basic Medical Sciences, Xi'an Jiaotong University, No.76 Yanta West Road, Xi'an, 710061, China. zhaoyae@xjtu.edu.cn.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Pathogenic Biology and Immunology, School of Basic Medical Sciences, Xi'an Jiaotong University, No.76 Yanta West Road, Xi'an, 710061, China.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Biology, University of North Georgia, Dahlonega, Georgia, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Biology, University of North Georgia, Dahlonega, Georgia, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Food Science and Market Quality and Handling Research Unit, USDA-Agricultural Research Service , Raleigh, North Carolina, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Food Science and Market Quality and Handling Research Unit, USDA-Agricultural Research Service , Raleigh, North Carolina, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Thomas H. Gosnell School of Life Sciences, Rochester Institute of Technology, Rochester, New York, USA aohsbi@rit.edu.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
CALIPHO Group, Swiss Institute of Bioinformatics, University of Geneva, Geneva 1206, Switzerland.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Biomedical Sciences, University of Padua, Padova 35121, Italy.
CNR Institute of Neuroscience, Padova 35121, Italy.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Biology, McGill University, Montreal, QC, Canada. paul.harrison@mcgill.ca.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Comparative, Diagnostic, and Population Medicine, College of Veterinary Medicine, University of Florida, Gainesville, Florida, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Comparative, Diagnostic, and Population Medicine, College of Veterinary Medicine, University of Florida, Gainesville, Florida, USA.
Publications dans "Annotation de séquence moléculaire" :
2 publications dans cette catégorie
Affiliations :
Department of Pathobiology and Veterinary Science and Center of Excellence for Vaccine Research, University of Connecticut, Storrs, Connecticut, USA.
Publications dans "Annotation de séquence moléculaire" :
Qualitative studies report that autistic women have poor experiences when being treated for an eating disorder (ED) and express that ED services are not appropriately tailored to meet their needs. It ...
An online survey about ED illness history and their experience with ED treatment was completed by 46 autistic women with a restrictive ED and 110 non-autistic women with a restrictive ED....
Despite some similarities, there were three key differences in the experiences reported by autistic and non-autistic women. First, autistic women reported a longer duration of ED and being diagnosed w...
These findings increase understanding of autistic women's ED experience and can help to shape ED services and treatments to better accommodate the needs of their autistic clients....
Anxiety and depression often coexist in youth and share overlapping symptomatology; however, little is known about the comorbidity of anxiety and depression in autistic youth. This study explores (1) ...
Children aged 7 to 13 years (N = 87) and their parents participated in a randomized controlled trial comparing 2 versions of a parent-led, telehealth-delivered CBT program. Parents and children comple...
Fifty-seven percent of the child sample reported experiencing elevated depressive symptoms while roughly 20% of parents reported elevated depressive symptoms in their child. A strong association betwe...
Findings suggest high degrees of comorbidity between anxiety and depression among autistic children and that feelings of loneliness, anxiety, and functional impairment may be early indicators of mood-...
Autistic women struggle with high levels of both autistic eating behaviours and disordered eating behaviours , which might make them particularly vulnerable to develop eating disorders. Research inves...
The link between autism and eating disorders has mainly been investigated from the field of eating disorder research, with studies finding an overrepresentation of autism or autistic traits in eating ...
Autistic women with an eating disorder seem to suffer from more complex eating disorders and seem to not benefit from current treatment modalities. This could be partly related to specific autism char...
Obsessive-compulsive disorder (OCD) is a chronic mental disorder that causes disabilities. This study investigated the relationship among impulsivity, autistic traits, and disabilities in patients wit...
Co-occurring psychiatric disorders are common in autism, with previous studies suggesting 54-94% of autistic individuals develop a mental health condition in their lifetime. Most studies have looked a...
This retrospective case-control study utilised the SAIL Databank to examine anonymised whole population electronic health record data from 2001 to 2016 in Wales, UK (...
All psychiatric conditions examined were more common amongst adults with autism after adjusting for age, sex and deprivation. Prevalence of attention-deficit hyperactivity disorder (7.00%), bipolar di...
We found that a range of psychiatric conditions were more frequently recorded in autistic individuals. We add to understanding of under-reporting and diagnostic overshadowing in autism. With increasin...
Research on areas such as social cognition, autistic traits, and minor physical anomalies in comorbid Specific Learning Disorder (SLD) and attention-deficit/hyperactivity disorder (ADHD) is limited. I...
In a cohort of adults with Functional Neurological Disorder (FND), we aim to: METHODS: 91 patients participating in a FND 5-week outpatient program completed baseline self-report questionnaires for to...
36 patients (40%) were AQ-10 positive (scoring ≥6 on AQ-10). A further 36 patients (across AQ-10 positive and AQ-10 negative groups) (40%) screened positive for alexithymia. AQ-10 positive patients sc...
We demonstrate a high proportion of autistic and alexithymic traits, in adults with FND. A higher prevalence of autistic traits may highlight a need for specialised communication approaches in FND man...
This study evaluated the role of overlapping traits and characteristics related to autism spectrum disorder (autism) and anorexia nervosa (AN) in the general population, and the impact of these traits...
A sample of young adults (N = 306), aged 18-25 years, was recruited to complete an online study that consisted of 4 measures: the Autism-Spectrum Quotient, Eating Disorder Examination Questionnaire, t...
Higher levels of autistic traits, particularly difficulty with attention switching, were associated with increased eating disorder psychopathology. Overall, autistic traits and eating disorder psychop...
The role of attention switching in overlapping traits of autism and eating disorder psychopathology needs to be more comprehensively evaluated by future research, as does the role of biological sex. E...
To our knowledge, treatment of personality disorder (PD) comorbidity in autistic adults is understudied and is still in its infancy. We investigated the effectiveness of schema therapy (ST) for autist...
A multiple case series design with 12 adults (aged 19-62 years) was used with baseline, exploration, ST (with cognitive behavioural and experiential techniques) and follow-up conditions. Participants ...
Mixed model analyses indicated significant effects of ST with medium to large effect sizes for dysfunctional core beliefs, functional schema modes, PD traits, general mental health symptoms and social...
The results of this study indicate that ST might be effective in decreasing dysfunctional core beliefs, PD traits and general mental health symptoms and in increasing functional schema modes and socia...
It is now established that definitions of recovery in eating disorders (EDs) should be informed by the lived/living experience of individuals and consider a broad range of physical, behavioral, and ps...
We propose that future studies are urgently required exploring definitions and conceptualizations of recovery in Autistic individuals with EDs, rooted in autism-led, participatory research approaches ...
Benefits and possible obstacles of implementing the proposed approach are discussed, before the authors outline specific suggestions for participatory designs and targets for future studies. Multidime...
EDs are common in Autistic individuals, however, very little is known about definitions of ED recovery in this population. Cross-disciplinary, research-driven definitions involving lived/living experi...