Rxivist combines preprints from bioRxiv with data from Twitter to help you find the papers being discussed in your field. Currently indexing 60,239 bioRxiv papers from 267,831 authors.
Paternally inherited noncoding structural variants contribute to autism
William M Brandler,
Morgan L Kleiber,
Michelle S Maile,
Timothy R Chapman,
Shih C Tang,
Keith K Vaux,
Daniel J Turner,
Stephen F Kingsmore,
Joseph G Gleeson,
J. Craig Venter,
Karen S Messer,
Caroline M Nievergelt,
Maria J Arranz,
Alysson R Muotri,
Lilia M Iakoucheva,
Posted 29 Mar 2017
bioRxiv DOI: 10.1101/102327 (published DOI: 10.1126/science.aan2261)
Posted 29 Mar 2017
The genetic architecture of autism spectrum disorder (ASD) is known to consist of contributions from gene-disrupting de novo mutations and common variants of modest effect. We hypothesize that the unexplained heritability of ASD also includes rare inherited variants with intermediate effects. We investigated the genome-wide distribution and functional impact of structural variants (SVs) through whole genome analysis (>30X coverage) of 3,169 subjects from 829 families affected by ASD. Genes that are intolerant to inactivating variants in the exome aggregation consortium (ExAC) were depleted for SVs in parents, specifically within fetal-brain promoters, UTRs and exons. Rare paternally-inherited SVs that disrupt promoters or UTRs were over-transmitted to cases (P = 0.0013) and not to their typically-developing siblings. Protein-coding SVs were also associated with ASD (P = 0.0025). Recurrent functional noncoding deletions implicate the gene LEO1 in ASD. Our results establish that rare inherited SVs predispose children to ASD, with differing contributions from each parent.
- Downloaded 2,180 times
- Download rankings, all-time:
- Site-wide: 1,842 out of 60,239
- In genomics: 405 out of 4,181
- Year to date:
- Site-wide: 19,906 out of 60,239
- Since beginning of last month:
- Site-wide: 24,292 out of 60,239
Downloads over time
Distribution of downloads per paper, site-wide
- Top preprints of 2018
- Paper search
- Author leaderboards
- Overall metrics
- The API
- Email newsletter
- 21 May 2019: PLOS Biology has published a community page about Rxivist.org and its design.
- 10 May 2019: The paper analyzing the Rxivist dataset has been published at eLife.
- 1 Mar 2019: We now have summary statistics about bioRxiv downloads and submissions.
- 8 Feb 2019: Data from Altmetric is now available on the Rxivist details page for every preprint. Look for the "donut" under the download metrics.
- 30 Jan 2019: preLights has featured the Rxivist preprint and written about our findings.
- 22 Jan 2019: Nature just published an article about Rxivist and our data.
- 13 Jan 2019: The Rxivist preprint is live!