Evidence map›Paper›PMID 37790480›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Rare variation in noncoding regions with evolutionary signatures contributes to autism spectrum disorder risk.

Taehwan Shin, Janet H T Song, Michael Kosicki, Connor Kenny, Samantha G Beck, Lily Kelley, Xuyu Qian, Julieta Bonacina, Frances Papandile, Irene Antony and 8 more

Open access · greenAbstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 5 citations in OpenAlex.

  1. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

18 authors at 2 institutions in 2 countries.

Taehwan ShinDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Janet H T SongDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Michael KosickiEnvironmental Genomics & Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Connor KennyDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Samantha G BeckDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Lily KelleyDivision of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School; Allen Discovery Center for Human Brain Evolution, Boston, MA, 02115, USA.
Xuyu QianDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Julieta BonacinaDivision of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School; Allen Discovery Center for Human Brain Evolution, Boston, MA, 02115, USA.
Frances PapandileDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Irene AntonyDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Dilenny GonzalezDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Julia ScotellaroDivision of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School; Allen Discovery Center for Human Brain Evolution, Boston, MA, 02115, USA.
Evan M BushinskyDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Rebecca E AndersenDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Eduardo MauryDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Len A PennacchioEnvironmental Genomics & Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.
Ryan N DoanDivision of Genetics and Genomics, Boston Children's Hospital; Department of Pediatrics, Harvard Medical School; Allen Discovery Center for Human Brain Evolution, Boston, MA, 02115, USA.
Christopher A WalshDivision of Genetics and Genomics, Boston Children's Hospital; Departments of Pediatrics and Neurology, Harvard Medical School; Allen Discovery Center for Human Brain Evolution; Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA, 02115, USA.
Boston Children's Hospital · USLawrence Berkeley National Laboratory · US

Funding

Generation of an In Vivo Human Genome Transcriptional Enhancer DatasetR01HG003988 · NHGRI · UNIVERSITY OF CALIF-LAWRENC BERKELEY LAB · PI Len Alexander Pennacchio · 2006 to 2026
$24.1M
Medical Scientist Training ProgramT32GM144273 · NIGMS · HARVARD MEDICAL SCHOOL · PI David Shumway Jones, Jacqueline A. Lees · 2022 to 2026
$14.7M
Genetic Analysis and Manipulation Core (GAEC)P50HD105351 · NICHD · BOSTON CHILDREN'S HOSPITAL · PI SCOTT Loren POMEROY, MUSTAFA SAHIN · 2021 to 2026
$9.4M
NHGRI NIH HHS R01 HG003988NICHD NIH HHS P50 HD105351NIGMS NIH HHS T32 GM144273Wellcome Trust
6 · The paper itself

Abstract

Little is known about the role of noncoding regions in the etiology of autism spectrum disorder (ASD). We examined three classes of noncoding regions: Human Accelerated Regions (HARs), which show signatures of positive selection in humans; experimentally validated neural Vista Enhancers (VEs); and conserved regions predicted to act as neural enhancers (CNEs). Targeted and whole genome analysis of >16,600 samples and >4900 ASD probands revealed that likely recessive, rare, inherited variants in HARs, VEs, and CNEs substantially contribute to ASD risk in probands whose parents share ancestry, which enriches for recessive contributions, but modestly, if at all, in simplex family structures. We identified multiple patient variants in HARs near

Indexed as

autism spectrum disordercaMPRAconsanguineous familiesconserved neural enhancersHuman Accelerated RegionsIL1RAPL1noncoding regionsrecessive variantsSIM1Vista Enhancers

Identifiers

PMID37790480
PMCPMC10543033
OpenAlexW4386949831

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.