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Research by Topic: noncoding
De novo mutations in regulatory elements in neurodevelopmental disorders
Published June 26, 2019 in natureWe previously estimated that 42% of patients with severe developmental disorders carry pathogenic de novo mutations in coding sequences. The role of de novo mutations in regulatory elements affecting genes associated with developmental disorders, or other genes, has been essentially unexplored. We identified de novo mutations in three classes of putative regulatory elements in almost […]
https://www.nature.com/articles/nature25983
Filed under: Autism Research, Autism Science, genetic, noncoding, whole genome sequencing
Paternally inherited cis-regulatory structural variants are associated with autism
Published June 26, 2019 in ScienceThe genetic basis of autism spectrum disorder (ASD) is known to consist of contributions from de novo mutations in variant-intolerant genes. We hypothesize that rare inherited structural variants in cis-regulatory elements (CRE-SVs) of these genes also contribute to ASD. We investigated this by assessing the evidence for natural selection and transmission distortion of CRE-SVs in […]
https://science.sciencemag.org/content/360/6386/327.long
Filed under: Autism Research, Autism Science, genetic, noncoding, whole genome sequencing