文章基本信息

标题：Human whole genome genotype and transcriptome data for Alzheimer’s and other neurodegenerative diseases
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作者：Mariet Allen ; Minerva M. Carrasquillo ; Cory Funk 等
期刊名称：Scientific Data
电子版ISSN：2052-4463
出版年度：2016
卷号：3
DOI：10.1038/sdata.2016.89
语种：English
出版社：Nature Publishing Group
摘要：Previous genome-wide association studies (GWAS), conducted by our group and others, have identified loci that harbor risk variants for neurodegenerative diseases, including Alzheimer's disease (AD). Human disease variants are enriched for polymorphisms that affect gene expression, including some that are known to associate with expression changes in the brain. Postulating that many variants confer risk to neurodegenerative disease via transcriptional regulatory mechanisms, we have analyzed gene expression levels in the brain tissue of subjects with AD and related diseases. Herein, we describe our collective datasets comprised of GWAS data from 2,099 subjects; microarray gene expression data from 773 brain samples, 186 of which also have RNAseq; and an independent cohort of 556 brain samples with RNAseq. We expect that these datasets, which are available to all qualified researchers, will enable investigators to explore and identify transcriptional mechanisms contributing to neurodegenerative diseases.