Evidence map›Paper›PMID 37041421›Full record

ArticleMammalian genome : official journal of the International Mammalian Genome Society2023

GWAS using low-pass whole genome sequence reveals a novel locus in canine congenital idiopathic megaesophagus.

Sarah M Bell, Jacquelyn M Evans, Elizabeth A Greif, Kate L Tsai, Steven G Friedenberg, Leigh Anne Clark

Open access · greenAbstract read
In one paragraph

Article in Mammalian genome : official journal of the International Mammalian Genome Society, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.8field-weighted citation impact, top 26% of its field
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

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
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

6 authors at 3 institutions in 1 country.

Sarah M BellDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.
Jacquelyn M EvansCollege of Veterinary Medicine, Baker Institute for Animal Health, Cornell University, Ithaca, NY, USA.
Elizabeth A GreifDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.
Kate L TsaiDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA.
Steven G FriedenbergDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN, USA. fried255@umn.edu.
Leigh Anne ClarkDepartment of Genetics and Biochemistry, Clemson University, Clemson, SC, USA. lclark4@clemson.edu.
Clemson University · USCornell University · USUniversity of Minnesota · US

Funding

Immunological Basis of Autoimmune Addison's Disease in a Novel Canine Model SystemK01OD027058 · OD · UNIVERSITY OF MINNESOTA · PI FRIEDENBERG, STEVEN GENE · 2019 to 2023
$724k
NIH HHS K01 OD027058
6 · The paper itself

Abstract

Congenital idiopathic megaesophagus (CIM) is a gastrointestinal disorder of dogs wherein the esophagus is dilated and swallowing activity is reduced, causing regurgitation of ingesta. Affected individuals experience weight loss and malnourishment and are at risk for aspiration pneumonia, intussusception, and euthanasia. Great Danes have among the highest incidences of CIM across dog breeds, suggesting a genetic predisposition. We generated low-pass sequencing data for 83 Great Danes and used variant calls to impute missing whole genome single-nucleotide variants (SNVs) for each individual based on haplotypes phased from 624 high-coverage dog genomes, including 21 Great Danes. We validated the utility of our imputed data set for genome-wide association studies (GWASs) by mapping loci known to underlie coat phenotypes with simple and complex inheritance patterns. We conducted a GWAS for CIM with 2,010,300 SNVs, identifying a novel locus on canine chromosome 1 (P-val = 2.76 × 10

Indexed as

Esophageal AchalasiaGenome-Wide Association StudyAnimalsDogsGenetic Predisposition to DiseaseGenomePhenotypePolymorphism, Single Nucleotide

Identifiers

PMID37041421
PMCPMC10600401
OpenAlexW4364379431

What OpenQuestion holds

Textmetadata
LicenceTDM
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.