Evidence map›Paper›PMID 34944310›Full record

ArticleAnimals : an open access journal from MDPI2021

Reverse Genetic Screen for Deleterious Recessive Variants in the Local Simmental Cattle Population of Switzerland.

Irene M Häfliger, Franz R Seefried, Cord Drögemüller

Open access · goldAbstract read
In one paragraph

Article in Animals : an open access journal from MDPI, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
4.7field-weighted citation impact, top 5% 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

5 citing papers in PubMed, 24 citations in OpenAlex.

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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

3 authors at 1 institution in 1 country.

Irene M HäfligerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0002-5648-963X
Franz R SeefriedQualitas AG, Chamerstrasse 56, 6300 Zug, Switzerland.ORCID 0000-0003-4396-2747
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0001-9773-522X
University of Bern · CH

Funding

Swiss National Science Foundation 31003A_172911
6 · The paper itself

Abstract

We herein report the result of a large-scale reverse genetic screen in the Swiss Simmental population, a local dual-purpose cattle breed. We aimed to detect possible recessively inherited variants affecting protein-coding genes, as such deleterious variants can impair fertility and rearing success significantly. We used 115,000 phased SNP data of almost 10 thousand cattle with pedigree data. This revealed evidence for 11 genomic regions of 1.17 Mb on average, with haplotypes (SH1 to SH11) showing a significant depletion in homozygosity and an allele frequency between 3.2 and 10.6%. For the proposed haplotypes, it was unfortunately not possible to evaluate associations with fertility traits as no corresponding data were available. For each haplotype region, possible candidate genes were listed based on their known function in development and disease. Subsequent mining of single-nucleotide variants and short indels in the genomes of 23 sequenced haplotype carriers allowed us to identify three perfectly linked candidate causative protein-changing variants: a SH5-related

Indexed as

Bos taurusbreedingcattleembryonic lethalityfertilityloss-of-function variantsreproductionSNP genotypingwhole-genome sequencing

Identifiers

PMID34944310
PMCPMC8698008
OpenAlexW4200481977

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.