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Updated: Jul 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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将遗传结构变异和全基因组测序整合到临床神经学中

Xin Lin1, Yuanhao Yang1, Phillip E Melton1

  • 1From the Menzies Institute for Medical Research (X.L., P.E.M., V.S., S.S.-Y., K.P.B., B.V.T., Y.Z.), University of Tasmania, Hobart, Australia; Mater Research Institute (Y.Y.), Translational Research Institute, Brisbane, QLD, Australia; Institute for Molecular Bioscience (Y.Y.), The University of Queensland, Brisbane, QLD, Australia; School of Population and Global Health (P.E.M.), University of Western Australia, Nedlands, WA; and Neuroepidemiology Unit (S.S.-Y.), Melbourne School of Population and Global Health, The University of Melbourne, Parkville, VIC, Australia.

Neurology. Genetics
|July 12, 2023
PubMed
概括

全基因组测序 (WGS) 推进了神经系统疾病的遗传标记物识别. WGS提高了结构变异的诊断准确性,改善了患者的预后和治疗开发.

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