Search results for "Rare genetic diseases"
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Approches bioinformatiques innovantes pour l’analyse de données de séquençage à haut-débit appliquées à l’étude de pathologies génétiques rares avec …
2020
In the last years, the advent of exome sequencing (ES) in diagnosis and in research led to the identification of the genetic bases of many Mendelian disorders, allowing many diagnostic wavering cases to be solved. Nevertheless, ES data analysis only leads to the identification of pathogenic or likely pathogenic variants in 30 to 45 % of the undiagnosed cases. Indeed, some limits exist, both at clinical, molecular and bioinformatic levels. The constant evolution of the clinical knowledge, of the number of genes involved in human diseases, and of the clinical-biological correlations, has a significant impact on data analysis, leading to a progressive improvement in diagnostic research. Limits…