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Updated: May 13, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
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一种整合性评分方法来优先考虑罕见的自闭症谱系障碍候选变异从整个外体序列数据的候选变异

Apurba Shil1,2,3, Noa Arava2, Noam Levi1,2,3

  • 1Department of Epidemiology, Biostatistics and Community Health Sciences, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Scientific reports
|April 15, 2025
PubMed
概括

AutScore.r是一个新的算法,有效地从整个外因组测序数据中优先考虑自闭症谱系障碍 (ASD) 候选变体,改善诊断产量和识别新型ASD基因.

关键词:
这是AutScore的自动评分.在 AutScore.rr 网站上查看.在ASD中,使用的是ASD.候选变体的候选变体是什么优先级算法 优先级算法在WES WES中,您可以使用

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