Titre : RNA-Seq

RNA-Seq : Questions médicales fréquentes

Termes MeSH sélectionnés :

DNA Copy Number Variations
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exprimés, influençant le traitement." } }, { "@type": "Question", "name": "Quelle est la précision de l'RNA-Seq pour le diagnostic ?", "position": 4, "acceptedAnswer": { "@type": "Answer", "text": "L'RNA-Seq offre une haute précision pour quantifier l'expression génique." } }, { "@type": "Question", "name": "L'RNA-Seq est-il standardisé pour le diagnostic ?", "position": 5, "acceptedAnswer": { "@type": "Answer", "text": "Il existe des protocoles standardisés, mais leur adoption varie selon les laboratoires." } }, { "@type": "Question", "name": "Quels symptômes peuvent être analysés par RNA-Seq ?", "position": 6, "acceptedAnswer": { "@type": "Answer", "text": "L'RNA-Seq peut aider à comprendre les symptômes liés à des déséquilibres d'expression génique." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il identifier des biomarqueurs de symptômes ?", "position": 7, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut révéler des biomarqueurs associés à des symptômes spécifiques de maladies." } }, { "@type": "Question", "name": "Peut-on prédire des symptômes futurs avec RNA-Seq ?", "position": 8, "acceptedAnswer": { "@type": "Answer", "text": "L'RNA-Seq peut aider à prédire des symptômes en analysant les profils d'expression génique." } }, { "@type": "Question", "name": "Les symptômes sont-ils liés à l'expression génique ?", "position": 9, "acceptedAnswer": { "@type": "Answer", "text": "Oui, des variations dans l'expression génique peuvent être corrélées à des symptômes cliniques." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à comprendre des symptômes complexes ?", "position": 10, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il permet d'analyser des réseaux de gènes impliqués dans des symptômes complexes." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à la prévention des maladies ?", "position": 11, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut identifier des facteurs de risque génétiques, permettant des mesures préventives." } }, { "@type": "Question", "name": "Comment l'RNA-Seq contribue-t-il à la recherche préventive ?", "position": 12, "acceptedAnswer": { "@type": "Answer", "text": "Il permet d'étudier les mécanismes moléculaires sous-jacents aux maladies pour mieux les prévenir." } }, { "@type": "Question", "name": "Peut-on utiliser RNA-Seq pour le dépistage précoce ?", "position": 13, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut être utilisé pour le dépistage précoce de certaines maladies génétiques." } }, { "@type": "Question", "name": "Quels types de prévention sont possibles avec RNA-Seq ?", "position": 14, "acceptedAnswer": { "@type": "Answer", "text": "La prévention ciblée et la surveillance des individus à risque sont possibles grâce à RNA-Seq." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à la prévention des cancers ?", "position": 15, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut identifier des biomarqueurs de risque pour des interventions préventives." } }, { "@type": "Question", "name": "Comment l'RNA-Seq influence-t-il les traitements ?", "position": 16, "acceptedAnswer": { "@type": "Answer", "text": "Il permet de personnaliser les traitements en fonction des profils d'expression génique." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il guider le choix des médicaments ?", "position": 17, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il aide à identifier les médicaments les plus efficaces selon l'expression des gènes." } }, { "@type": "Question", "name": "Quels traitements peuvent être optimisés par RNA-Seq ?", "position": 18, "acceptedAnswer": { "@type": "Answer", "text": "Les traitements du cancer et des maladies auto-immunes peuvent être optimisés grâce à RNA-Seq." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à surveiller l'efficacité des traitements ?", "position": 19, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il permet de suivre les changements d'expression génique en réponse aux traitements." } }, { "@type": "Question", "name": "Y a-t-il des traitements spécifiques basés sur RNA-Seq ?", "position": 20, "acceptedAnswer": { "@type": "Answer", "text": "Des thérapies ciblées sont développées en fonction des résultats d'RNA-Seq pour certains cancers." } }, { "@type": "Question", "name": "Quelles complications peuvent être détectées par RNA-Seq ?", "position": 21, "acceptedAnswer": { "@type": "Answer", "text": "Il peut révéler des complications liées à des mutations génétiques ou à des déséquilibres d'expression." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il prédire des complications ?", "position": 22, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut aider à prédire des complications en analysant les profils d'expression génique." } }, { "@type": "Question", "name": "Comment RNA-Seq aide-t-il à gérer les complications ?", "position": 23, "acceptedAnswer": { "@type": "Answer", "text": "Il permet d'adapter les traitements en fonction des complications identifiées par l'analyse." } }, { "@type": "Question", "name": "Y a-t-il des complications spécifiques liées à RNA-Seq ?", "position": 24, "acceptedAnswer": { "@type": "Answer", "text": "Les complications sont généralement liées à l'interprétation des données plutôt qu'à la technique elle-même." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à éviter des complications ?", "position": 25, "acceptedAnswer": { "@type": "Answer", "text": "Oui, en identifiant les risques, il peut contribuer à éviter certaines complications cliniques." } }, { "@type": "Question", "name": "Quels facteurs de risque peuvent être identifiés par RNA-Seq ?", "position": 26, "acceptedAnswer": { "@type": "Answer", "text": "Il peut identifier des facteurs génétiques et environnementaux associés à des maladies." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il révéler des risques pour des maladies spécifiques ?", "position": 27, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut révéler des risques pour des maladies comme le cancer ou les maladies cardiovasculaires." } }, { "@type": "Question", "name": "Comment RNA-Seq aide-t-il à évaluer les facteurs de risque ?", "position": 28, "acceptedAnswer": { "@type": "Answer", "text": "Il analyse l'expression des gènes pour déterminer les facteurs de risque potentiels." } }, { "@type": "Question", "name": "Peut-on utiliser RNA-Seq pour des études épidémiologiques ?", "position": 29, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il est utilisé pour étudier les facteurs de risque dans des populations spécifiques." } }, { "@type": "Question", "name": "L'RNA-Seq peut-il aider à identifier des risques environnementaux ?", "position": 30, "acceptedAnswer": { "@type": "Answer", "text": "Oui, il peut révéler comment les facteurs environnementaux influencent l'expression génique." } } ] } ] }

Sources (10000 au total)

Multiple copy number variation in a patient with Kleefstra syndrome.

To report a rare case of a patient with a molecular diagnosis of Kleefstra syndrome (KS) who has four other chromosomal alterations involving pathogenic variants.... Male patient, two years old, with global delay, including in neuropsychomotor development, ocular hypertelorism, broad forehead, brachycephaly, hypotonia, ligament laxity, unilateral single palmar cre... The presence of pathogenic CNVs and/or those of uncertain significance, located on chromosomes 2, 6 and Y, may be contributing to a variability in the patient's clinical condition (arachnoid cyst, sin...

A crowdsourcing database for the copy-number variation of the Spanish population.

Despite being a very common type of genetic variation, the distribution of copy-number variations (CNVs) in the population is still poorly understood. The knowledge of the genetic variability, especia... Here, we present the SPAnish Copy Number Alterations Collaborative Server (SPACNACS), which currently contains copy number variation profiles obtained from more than 400 genomes and exomes of unrelate... SPACNACS facilitates disease gene discovery by providing detailed information of the local variability of the population and exemplifies how to reuse genomic data produced for other purposes to build ...

Association between clinical variations and copy number variations in cases with Turner syndrome.

Turner syndrome (TS) is one of the most common chromosomal abnormalities with an incidence of approximately one in 2,500 live births. Short stature and primary ovarian insufficiency are two most impor... Fifty-three patients diagnosed with TS, between the ages of 0-18 were included in the study. Peripheral blood samples were taken from 36 cases for microarray study.... Karyotypes were as follows: thirty-three of cases were 45,X, 7 were 45,X/46,XX, 6 were 45,X/46,Xi(Xq), 2 were 46,Xi(Xq), 2 were 45,X/46,r(X), 1 was 45,X/46,Xi(Xp), 1 was 45,X/46,XY and 1 was 45,X/46,X... In conclusion, the microarray method has a great contribution in explaining many unexpected findings in TS cases. Moreover, those CNV findings may contribute for the explanation of the underlying mech...

A comprehensive analysis of copy number variations in diverse apple populations.

As an important source of genetic variation, copy number variation (CNV) can alter the dosage of DNA segments, which in turn may affect gene expression level and phenotype. However, our knowledge of C... In this study, we identified 914,610 CNVs comprising 14,839 CNV regions (CNVRs) from 346 apple accessions, including 289 cultivars and 57 wild relatives. CNVRs summed to 71.19 Mb, accounting for 10.03... This study was based on identification of CNVs from 346 diverse apple accessions, which to our knowledge was the largest dataset for CNV analysis in apple. Our work presented the first comprehensive C...

Analysis of copy number variation in men with non-obstructive azoospermia.

Recent findings demonstrate that single nucleotide variants can cause non-obstructive azoospermia (NOA). In contrast, copy number variants (CNVs) were only analysed in few studies in infertile men. So... This study aimed to elucidate if CNVs are associated with NOA.... We performed array-based comparative genomic hybridisation (aCGH) in 37 men with meiotic arrest, 194 men with Sertoli cell-only phenotype, and 21 control men. We filtered our data for deletions affect... We determined the cause of infertility in two individuals with homozygous deletions of SYCE1 and in one individual with a heterozygous deletion of SYCE1 combined with a likely pathogenic missense vari... While SYCE1 and MLH3 encode known meiosis-specific proteins, much less is known about the proteins encoded by the other identified candidate genes, warranting further analyses. We were able to identif... As aCGH and exome sequencing are both expensive methods, combining both in a clinical routine is not an effective strategy. Instead, using CNV calling from exome data has recently become more precise,...