Development of gene-prioritising methods using statistical genetics and clinical annotation for rare genetic disorders / Développement de méthodes de priorisation de gènes pour les maladies génétiques rares grâce à un test paramétrique de statistique génétique et à l'annotation clinique
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Tác giả chưa xác định. Development of gene-prioritising methods using statistical genetics and clinical annotation for rare genetic disorders / Développement de méthodes de priorisation de gènes pour les maladies génétiques rares grâce à un test paramétrique de statistique génétique et à l'annotation clinique. Thesis, HAL - Pháp.
Việt Nam (chuẩn TCVN 5453:1991):
. Development of gene-prioritising methods using statistical genetics and clinical annotation for rare genetic disorders / Développement de méthodes de priorisation de gènes pour les maladies génétiques rares grâce à un test paramétrique de statistique génétique et à l'annotation clinique. Thesis. HAL - Pháp. Truy cập từ .
Tóm tắt
To this day, near 70% of patients suffering from Mendelian diseases remain without any diagnosis after their DNA sequencing. There is a need to study those disorders regarding their potential genetic causes with the newest genomic and bioinformatics tools to find potential therapeutic strategies. Whole exome sequencing (WES) and whole genome sequencing (WGS) have improved the precision of rare disease analyses for clinical research. Precision medicine and genomics opened the door for a better un...