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Article

Homozygous deletions implicate non-coding epigenetic marks in Autism spectrum disorder.

Scientific reports - 20 Aug 2020

Schmitz-Abe Klaus, Sanchez-Schmitz Guzman, Doan Ryan N, Hill R Sean, Chahrour Maria H, Mehta Bhaven K, Servattalab Sarah, Ataman Bulent, Lam Anh-Thu N, Morrow Eric M, Greenberg Michael E, Yu Timothy W, Walsh Christopher A, Markianos Kyriacos

Abstract excerpt

More than 98% of the human genome is made up of non-coding DNA, but techniques to ascertain its contribution to human disease have lagged far behind our understanding of protein coding variations. Autism spectrum disorder (ASD) has been mostly associated with coding variations via de novo single nucleotide variants (SNVs), recessive/homozygous SNVs, or de novo copy number variants (CNVs); however, most ASD cases...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32820185
DOI: 10.1038/s41598-020-70656-0
PMCID: PMC7441318

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