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Allele-specific open chromatin in human iPSC neurons elucidates functional disease variants

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Science  31 Jul 2020:
Vol. 369, Issue 6503, pp. 561-565
DOI: 10.1126/science.aay3983

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Effects of allele-specific open chromatin

Genetic variants in noncoding regions of the genome may underlie the development of disease. However, we are just beginning to tease apart the function of such variants associated with neuropsychiatric disease. Using five types of neural progenitor cells derived from 20 human induced pluripotent stem cell lines, Zhang et al. looked at allele-specific open chromatin (ASoC) variants. Many ASoC variants overlapped with genomic elements, such as transcription factor binding sites, and loci identified in genome-wide association studies for neurological traits. From the experimental and computational analyses, they identified single-nucleotide polymorphisms and illuminate how one schizophrenia-associated variant affects neurodevelopment.

Science, this issue p. 561

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