Evidence map›Paper›PMID 37034635›Full record

ArticlemedRxiv : the preprint server for health sciences2023

Rare genetic variants in

Sarah W Curtis, Jenna C Carlson, Terri H Beaty, Jeffrey C Murray, Seth M Weinberg, Mary L Marazita, Justin L Cotney, David J Cutler, Michael P Epstein, Elizabeth J Leslie

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. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed, 4 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 5 institutions in 1 country.

Sarah W CurtisDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Jenna C CarlsonDepartment of Human Genetics, University of Pittsburgh, Pittsburgh, PA, 15621, USA.
Terri H BeatyDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD, 21205,USA.
Jeffrey C MurrayDepartment of Pediatrics, University of Iowa, Iowa City, IA, 52242, USA.
Seth M WeinbergDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Mary L MarazitaDepartment of Biostatistics, University of Pittsburgh, Pittsburgh, PA, 15261, USA.
Justin L CotneyDepartment of Genetics and Genome Sciences, University of Connecticut, CT, 06030, USA.
David J CutlerDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Michael P EpsteinDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Elizabeth J LeslieDepartment of Human Genetics, Emory University, Atlanta, GA, 30322, USA.
Emory University · USUniversity of Pittsburgh · USJohns Hopkins University · USUniversity of Connecticut · USUniversity of Iowa · US

Funding

Large Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7M
GMKF competing renewalU24HD090743 · NICHD · BROAD INSTITUTE, INC. · PI Stacey Gabriel · 2016 to 2026
$68.3M
U2C Kids First Admin Supplement - data transferU2CHL138346 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI RESNICK, ADAM CAIN · 2017 to 2022
$21.5M
Extending the Phenotype of Nonsyndromic Orofacial CleftsR01DE016148 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2004 to 2018
$19.7M
Molecular Genetic Epidemiology of Cleft Lip and PalateR37DE008559 · NIDCR · UNIVERSITY OF IOWA · PI MURRAY, JEFFREY C · 2004 to 2013
$6.8M
International Genetic Epidemiology of Oral CleftsR01DE014581 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2004 to 2013
$6.6M
The Genetic Architecture of Human Facial MorphologyR01DE027023 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI CLAES, PETER, SHAFFER, JOHN R · 2017 to 2024
$5.2M
Unraveling mechanisms of genome regulation to understand and improvehuman healthR35GM119465 · NIGMS · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI COTNEY, JUSTIN LEE · 2016 to 2025
$3.9M
Genetic modifiers of Van der Woude syndromeR01DE028342 · NIDCR · EMORY UNIVERSITY · PI LESLIE-CLARKSON, ELIZABETH JANE · 2019 to 2023
$2.7M
3D Analysis of Normal Facial Variation: Data Repository and Genetics (Research)U01DE020078 · NIDCR · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI MARAZITA, MARY L., WEINBERG, SETH M · 2009 to 2013
$2.0M
Functional characterization of craniofacial enhancers at single cell and single base pair resolutionR01DE028945 · NIDCR · UNIVERSITY OF CONNECTICUT SCH OF MED/DNT · PI COTNEY, JUSTIN LEE · 2019 to 2023
$1.9M
International Consortium to Identify Genes and Interactions Controlling Oral ClefU01DE018993 · NIDCR · JOHNS HOPKINS UNIVERSITY · PI BEATY, TERRI H · 2007 to 2008
$1.6M
NHGRI NIH HHS U54 HG003079NHLBI NIH HHS U2C HL138346NICHD NIH HHS U24 HD090743NIDCR NIH HHS F32 DE032260NIDCR NIH HHS R00 DE025060NIDCR NIH HHS R01 DE009886NIDCR NIH HHS R01 DE014581NIDCR NIH HHS R01 DE016148NIDCR NIH HHS R01 DE027023NIDCR NIH HHS R01 DE028342NIDCR NIH HHS R03 DE030118NIDCR NIH HHS R21 DE016930NIDCR NIH HHS R21 DE029698NIDCR NIH HHS R37 DE008559NIDCR NIH HHS U01 DE018993NIDCR NIH HHS U01 DE020078NIDCR NIH HHS U01 DE024425NIGMS NIH HHS R35 GM119465
6 · The paper itself

Abstract

As one of the most common structural birth defects, orofacial clefts (OFCs) have been studied for decades, and recent studies have demonstrated that there are genetic differences between the different phenotypic presentations of OFCs. However, the contribution of rare genetic variation genome-wide to different subtypes of OFCs has been understudied, with most studies focusing on common genetic variation or rare variation within targeted regions of the genome. Therefore, we used whole-genome sequencing data from the Gabriella Miller Kids First Pediatric Research Program to conduct a gene-based burden analysis to test for genetic modifiers of cleft lip (CL) vs cleft lip and palate (CLP). We found that there was a significantly increased burden of rare variants in

Identifiers

PMID37034635
PMCPMC10081436
OpenAlexW4360991351

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

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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.