Evidence map›Paper›PMID 29142306›Full record

ArticleScientific reports2017

An exome sequencing based approach for genome-wide association studies in the dog.

Bart J G Broeckx, Thomas Derrien, Stéphanie Mottier, Valentin Wucher, Edouard Cadieu, Benoît Hédan, Céline Le Béguec, Nadine Botherel, Kerstin Lindblad-Toh, Jimmy H Saunders and 4 more

Abstract read
In one paragraph

Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

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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

14 authors.

Bart J G BroeckxLaboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium. Bart.Broeckx@ugent.be.ORCID 0000-0001-6742-3911
Thomas DerrienInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Stéphanie MottierInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Valentin WucherInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Edouard CadieuInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Benoît HédanInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Céline Le BéguecInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Nadine BotherelInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Kerstin Lindblad-TohBroad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.
Jimmy H SaundersDepartment of Medical Imaging and Orthopedics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Dieter DeforceLaboratory of Pharmaceutical Biotechnology, Faculty of Pharmaceutical Sciences, Ghent University, Ghent, Belgium.ORCID 0000-0002-0635-661X
Catherine AndréInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France.
Luc PeelmanLaboratory of Animal Genetics, Faculty of Veterinary Medicine, Ghent University, Merelbeke, Belgium.
Christophe HitteInstitut de Génétique et Développement de Rennes, CNRS-URM6290, Université Rennes1, Rennes, France. Christophe.Hitte@univ-rennes1.fr.

Funding

Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6M
NHGRI NIH HHS U54 HG003067
6 · The paper itself

Abstract

Genome-wide association studies (GWAS) are widely used to identify loci associated with phenotypic traits in the domestic dog that has emerged as a model for Mendelian and complex traits. However, a disadvantage of GWAS is that it always requires subsequent fine-mapping or sequencing to pinpoint causal mutations. Here, we performed whole exome sequencing (WES) and canine high-density (cHD) SNP genotyping of 28 dogs from 3 breeds to compare the SNP and linkage disequilibrium characteristics together with the power and mapping precision of exome-guided GWAS (EG-GWAS) versus cHD-based GWAS. Using simulated phenotypes, we showed that EG-GWAS has a higher power than cHD to detect associations within target regions and less power outside target regions, with power being influenced further by sample size and SNP density. We analyzed two real phenotypes (hair length and furnishing), that are fixed in certain breeds to characterize mapping precision of the known causal mutations. EG-GWAS identified the associated exonic and 3'UTR variants within the FGF5 and RSPO2 genes, respectively, with only a few samples per breed. In conclusion, we demonstrated that EG-GWAS can identify loci associated with Mendelian phenotypes both within and across breeds.

Indexed as

BreedingExome SequencingAnimalsChromosome MappingDogsExomeGenome-Wide Association StudyGenotypePolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID29142306
PMCPMC5688105

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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.