Improving Episodic Ataxia Diagnosis by Combination of WGS and RNA-seq in Complex Cases (2840)
2021; Lippincott Williams & Wilkins; Volume: 96; Issue: 15_supplement Linguagem: Inglês
10.1212/wnl.96.15_supplement.2840
ISSN1526-632X
AutoresSébastien Audet, Eric Bareke, Valérie Triassi, Camille Michaud, Lahoud Touma, Vincent Ferraro, Antoine Duquette, Martine Tétreault,
Tópico(s)Molecular Biology Techniques and Applications
ResumoThis pilot study aims to develop an integrative analysis method that allows for an increased diagnosis success rate of rare genetic mutations. Moreover, identification of novel genes associated with Episodic Ataxia (EA) and evaluation of new AI-generated prediction algorithm, for a more robust variant examination, will ensue from the investigation.
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