,
,
, 23 I.1.2-Variations génomiques (SNV, indel, CNV et variations de structures)
3-Mécanismes de rétrotransposition des rétrotransposons non-LTR ,
,
3-Particularités de l'étude moléculaire de l'ADNmt ,
1.1-Les technologies de séquençage à haut débit d'exome, III-Séquençage de deuxième génération : l'avènement du séquençage à haut débit d'exome ,
, Les limites du séquençage à haut débit d'exome
, 2-L'essor du séquençage à haut débit de l'exome dans les
,
Intérêt de la réanalyse recherche des données de séquençage d'exome dans les anomalies du développement et déficience intellectuelle, vol.87 ,
,
,
4-Validation de la variation du gène OTUD7A par méthode Sanger, Traitement et alignement des données brutes de séquençage d'exome dans un but de réanalyse ,
, 5.5-Détection des protéines ubiquitinées via la lysine 48
, 1-Identification d'une variation homozygote faux-sens au sein du gène OTUD7A
110 III.2.1-Présentation clinique de la patiente ,
, IV-Discussion générale : la réanalyse recherche, une stratégie pour identifier de nouveaux gènes impliqués dans les AD
, Analyse de l'ADN mitochondrial à partir de données de séquençage d'exome
5-Validations par Sanger et par PCR-RFLP de variations mitochondriales, Mise en évidence de variations mitochondriales pathogènes causales et secondaires ,
, Identification des éléments mobiles à partir de données de séquençage d'exome
, -Outils bioinformatiques testés au cours du projet
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Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large chinese family. The American DEUXIÈME PARTIE : Analyse de l'ADN mitochondrial à partir de données de séquençage d'exome DISCUSSION, CONCLUSION ET PERSPECTIVES Plusieurs perspectives peuvent être considérées dans l'optique de réduire les situations d'impasse diagnostique, que cela soit dans l'amélioration des connaissances clinicobiologiques, des techniques ou des pipelines bioinformatiques. Différentes pistes peuvent être évoquées pour optimiser l'analyse des données. Citons la réanalyse des données d'exome, qui grâce à l'augmentation des connaissances, 2004. ,
qui pourrait permettre un gain de temps lors de l'interprétation en seconde intention, 2014. ,
Sur le plan bioinformatique, d'autres perspectives peuvent être citées ,
, , 2018.
Il existe donc des variations dans les régions non codantes qui peuvent avoir un impact sur l'expression des gènes, la stabilité de l'ARNm ou la fonction des protéines ; et qui ne sont détectables qu'en génome. D'autres pistes commencent donc à être explorées en combinant bioinformatique, séquençage du génome et analyses multi-omiques. Ainsi, il a été montré que le séquençage à haut débit de génome permet d'augmenter le taux diagnostique, 2014. ,
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Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy and related proteasome dysfunction, Clin Genet, 2020. ,
Laurence Faivre & Christel Thauvin-Robinet. Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants, Orphanomix Physician's Group, 2019. ,
Orphanomix Physicians' Group, Pierre Vabres, Anne-Laure Mosca-Boidron, Patrick Callier, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet. A 2.5 years' experience of GeneMatcher datasharing: a powerful tool for identifying new genes responsible for rare diseases, Genet Med, 2019. ,
Thauvin-Robinet Christel, Duffourd Yannis. Décrypter les données de SHD d'exomes : les variations mitochondriales en lumière, vol.18, 2018. ,
Thauvin-Robinet Christel, Duffourd Yannis. Décrypter les données de SHD d'exomes : les variations mitochondriales en lumière, 2019. ,
Thauvin-Robinet Christel, Duffourd Yannis. Intérêt de la recherche de variations mitochondriales à partir de données de ES chez des patients atteints d'anomalies du développement et/ou de déficience intellectuelle, 2019. ,
Intérêt de la recherche de variations mitochondriales à partir de données de ES chez des patients atteints d'anomalies du développement et/ou de déficience intellectuelle, vol.24 ,
Identification de variations pathogènes de l'ADN mitochondrial (ADNmt) à partir de données de séquençage à haut débit d'exome (SHD-E), vol.16, 2018. ,
Identification of mitochondrial disease variants on whole exome sequencing data, vol.20, 2018. ,
Deciphering exome sequencing data: bringing mitochondrial DNA variants to light, 2019. ,
Report of the first patient with a homozygous OTUD7A variant responsible for epileptic encephalopathy, 2019. ,
Description du premier patient atteint d'encéphalopathie épileptique porteur d'une variation homozygote dans le gène OTUD7A, vol.24 ,
, Thauvin-Robinet Christel