↓ Skip to main content

Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome

Overview of attention for article published in BMC Genomics, August 2016
Altmetric Badge

About this Attention Score

  • In the top 25% of all research outputs scored by Altmetric
  • Good Attention Score compared to outputs of the same age (74th percentile)
  • Good Attention Score compared to outputs of the same age and source (76th percentile)

Mentioned by

twitter
5 tweeters
facebook
2 Facebook pages
wikipedia
1 Wikipedia page

Citations

dimensions_citation
9 Dimensions

Readers on

mendeley
20 Mendeley
citeulike
2 CiteULike
You are seeing a free-to-access but limited selection of the activity Altmetric has collected about this research output. Click here to find out more.
Title
Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome
Published in
BMC Genomics, August 2016
DOI 10.1186/s12864-016-2844-6
Pubmed ID
Authors

Julia Metzger, Sophia Pfahler, Ottmar Distl

Abstract

The Lundehund is a highly specialized breed characterized by a unique flexibility of the joints and polydactyly in all four limbs. The extremely small population size and high inbreeding has promoted a high frequency of diseased dogs affected by the Lundehund syndrome (LS), a severe gastro-enteropathic disease. Comprehensive analysis of bead chip and whole-genome sequencing data for LS in the Lundehund resulted in a genome-wide association signal on CFA 34 and LS-specific runs of homozygosity (ROH) in this region. Filtering analysis for variants with predicted high or moderate effects revealed a missense mutation in LEPREL1 1.2 Mb proximal to the region of the genome-wide association, which was shown to be significantly associated with LS. LS-affected Lundehund harbored the mutant LEPREL1:g.139212C>G genotype A/A whereas all controls of other breeds showed the C/C wild type. In addition, ROH analysis for the Lundehund indicated a high enrichment of genes in potential signatures of selection affecting protein activation and immunoregulatory processes like NOD1 potentially involved in LS breed disposition. Sequencing results for Lundehund specific traits reveal a potential causative mutation for LS in the neuropeptide operating gene LEPREL1 and suggests it as a precursor of the inflammatory process. Analyses of ROH regions give an insight into the genetic background of characteristic traits in the Lundehund that remain to be elucidated in the future.

Twitter Demographics

The data shown below were collected from the profiles of 5 tweeters who shared this research output. Click here to find out more about how the information was compiled.

Mendeley readers

The data shown below were compiled from readership statistics for 20 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 20 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 5 25%
Researcher 4 20%
Other 3 15%
Student > Bachelor 3 15%
Student > Master 2 10%
Other 1 5%
Unknown 2 10%
Readers by discipline Count As %
Agricultural and Biological Sciences 8 40%
Biochemistry, Genetics and Molecular Biology 7 35%
Veterinary Science and Veterinary Medicine 3 15%
Medicine and Dentistry 1 5%
Unknown 1 5%

Attention Score in Context

This research output has an Altmetric Attention Score of 6. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 26 January 2017.
All research outputs
#4,363,925
of 18,360,230 outputs
Outputs from BMC Genomics
#1,869
of 9,574 outputs
Outputs of similar age
#68,247
of 272,838 outputs
Outputs of similar age from BMC Genomics
#10
of 39 outputs
Altmetric has tracked 18,360,230 research outputs across all sources so far. Compared to these this one has done well and is in the 76th percentile: it's in the top 25% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 9,574 research outputs from this source. They receive a mean Attention Score of 4.4. This one has done well, scoring higher than 80% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 272,838 tracked outputs that were published within six weeks on either side of this one in any source. This one has gotten more attention than average, scoring higher than 74% of its contemporaries.
We're also able to compare this research output to 39 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 76% of its contemporaries.