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Genome-wide charact...
Genome-wide characteristics of de novo mutations in autism
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Yuen, RKC (author)
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Merico, D (author)
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Cao, HZ (author)
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show more...
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Pellecchia, G (author)
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Alipanahi, B (author)
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Thiruvahindrapuram, B (author)
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Tong, X (author)
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Sun, YH (author)
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Cao, DD (author)
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Zhang, T (author)
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Wu, XL (author)
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Jin, X (author)
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Zhou, Z (author)
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Liu, XM (author)
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Nalpathamkalam, T (author)
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Walker, S (author)
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Howe, JL (author)
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Wang, ZZ (author)
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MacDonald, JR (author)
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Chan, AJS (author)
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D'Abate, L (author)
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Deneault, E (author)
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Siu, MT (author)
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- Tammimies, K (author)
- Karolinska Institutet
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Uddin, M (author)
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Zarrei, M (author)
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Wang, MB (author)
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Li, YR (author)
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Wang, J (author)
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Wang, J (author)
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Yang, HM (author)
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Bookman, M (author)
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Bingham, J (author)
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Gross, SS (author)
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Loy, D (author)
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Pletcher, M (author)
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Marshall, CR (author)
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Anagnostou, E (author)
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Zwaigenbaum, L (author)
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Weksberg, R (author)
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Fernandez, BA (author)
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Roberts, W (author)
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Szatmari, P (author)
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Glazer, D (author)
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Frey, BJ (author)
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Ring, RH (author)
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Xu, X (author)
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Scherer, SW (author)
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(creator_code:org_t)
- 2016-08-03
- 2016
- English.
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In: NPJ genomic medicine. - : Springer Science and Business Media LLC. - 2056-7944. ; 1, s. 160271-1602710
- Related links:
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https://www.nature.c...
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http://kipublication...
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https://doi.org/10.1...
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Abstract
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- De novo mutations (DNMs) are important in autism spectrum disorder (ASD), but so far analyses have mainly been on the ~1.5% of the genome encoding genes. Here, we performed whole-genome sequencing (WGS) of 200 ASD parent–child trios and characterised germline and somatic DNMs. We confirmed that the majority of germline DNMs (75.6%) originated from the father, and these increased significantly with paternal age only (P=4.2×10−10). However, when clustered DNMs (those within 20 kb) were found in ASD, not only did they mostly originate from the mother (P=7.7×10−13), but they could also be found adjacent to de novo copy number variations where the mutation rate was significantly elevated (P=2.4×10−24). By comparing with DNMs detected in controls, we found a significant enrichment of predicted damaging DNMs in ASD cases (P=8.0×10−9; odds ratio=1.84), of which 15.6% (P=4.3×10−3) and 22.5% (P=7.0×10−5) were non-coding or genic non-coding, respectively. The non-coding elements most enriched for DNM were untranslated regions of genes, regulatory sequences involved in exon-skipping and DNase I hypersensitive regions. Using microarrays and a novel outlier detection test, we also found aberrant methylation profiles in 2/185 (1.1%) of ASD cases. These same individuals carried independently identified DNMs in the ASD-risk and epigenetic genes DNMT3A and ADNP. Our data begins to characterize different genome-wide DNMs, and highlight the contribution of non-coding variants, to the aetiology of ASD.
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- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Yuen, RKC
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Merico, D
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Cao, HZ
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Pellecchia, G
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Alipanahi, B
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Thiruvahindrapur ...
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show more...
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Tong, X
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Sun, YH
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Cao, DD
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Zhang, T
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Wu, XL
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Jin, X
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Zhou, Z
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Liu, XM
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Nalpathamkalam, ...
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Walker, S
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Howe, JL
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Wang, ZZ
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MacDonald, JR
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Chan, AJS
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D'Abate, L
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Deneault, E
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Siu, MT
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Tammimies, K
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Uddin, M
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Zarrei, M
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Wang, MB
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Li, YR
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Wang, J
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Yang, HM
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Bookman, M
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Bingham, J
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Gross, SS
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Loy, D
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Pletcher, M
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Marshall, CR
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Anagnostou, E
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Zwaigenbaum, L
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Weksberg, R
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Fernandez, BA
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Roberts, W
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Szatmari, P
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Glazer, D
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Frey, BJ
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Ring, RH
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Xu, X
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Scherer, SW
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show less...
- Articles in the publication
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NPJ genomic medi ...
- By the university
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Karolinska Institutet