Evaluating Neurological Disease Genes

We accessed 299 known haploinsufficient (HI) genes from Dang et al. (2008) (link). We retained 49 HI genes that are related to neurodegenerative and/or neurodevelopmental diseases (i.e., Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, SA, multiple system atrophy, epilepsy, autism spectrum disorder, and schizophrenia) (Supplementary Table 6). These 49 genes were used as a positive control for evaluating the strictness measure.

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Liu H., Guan L., Deng M., Bolund L., Kristiansen K., Zhang J., Luo Y, & Zhang Z. (2023). Integrative genetic and single cell RNA sequencing analysis provides new clues to the amyotrophic lateral sclerosis neurodegeneration. Frontiers in Neuroscience, 17, 1116087.

Publication 2023

Autism spectrum disorder Epilepsy Genes Haploinsufficient Huntington disease Multiple system atrophy Neurodevelopmental diseases Schizophrenia

Corresponding Organization : Aarhus University

Other organizations : University of Copenhagen, Peking University, Peking University Third Hospital

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Variable analysis

independent variables

Not explicitly mentioned

dependent variables

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control variables

49 haploinsufficient (HI) genes related to neurodegenerative and/or neurodevelopmental diseases (e.g., Alzheimer's disease, Parkinson's disease, Huntington's disease, SA, multiple system atrophy, epilepsy, autism spectrum disorder, and schizophrenia)

positive controls

The 49 HI genes related to neurodegenerative and/or neurodevelopmental diseases were used as a positive control for evaluating the strictness measure.

negative controls

Not explicitly mentioned

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