Rxivist logo

Autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) are substantially heritable, but individuals with psychiatric diagnoses often do not have blood drawn as part of routine medical procedure, making it difficult to collect large cohorts for genetic study. To overcome this challenge, we drew upon two Danish national resources: the Danish Neonatal Screening Biobank (DNSB) and the Danish national psychiatric registry. We have previously validated the use of archived bloodspots from the DNSB for genotyping and sequencing, and we recently performed common variant analysis on dried bloodspot material in both ASD and ADHD. Here, we present exome sequences from over 13,000 DNSB samples, finding that ASD and ADHD show a strikingly similar burden of rare protein-truncating variants, both significantly higher than controls. Additionally, the distributions of genes hit by these variants are not distinguishable between the two disorders, suggesting that many risk genes may be shared between them. These results motivate a combined analysis across ASD and ADHD, which--in conjunction with incorporation of the gnomAD reference database as additional population controls--leads to the identification of genes conferring general risk for childhood psychiatric disorders, including the novel gene MAP1A.

Download data

  • Downloaded 1,590 times
  • Download rankings, all-time:
    • Site-wide: 5,779 out of 100,306
    • In genetics: 412 out of 4,997
  • Year to date:
    • Site-wide: 17,609 out of 100,306
  • Since beginning of last month:
    • Site-wide: None out of 100,306

Altmetric data


Downloads over time

Distribution of downloads per paper, site-wide


PanLingua

Sign up for the Rxivist weekly newsletter! (Click here for more details.)


News

  • 20 Oct 2020: Support for sorting preprints using Twitter activity has been removed, at least temporarily, until a new source of social media activity data becomes available.
  • 18 Dec 2019: We're pleased to announce PanLingua, a new tool that enables you to search for machine-translated bioRxiv preprints using more than 100 different languages.
  • 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!