Evidence map›Paper›PMID 36131008›Full record

ArticleCommunications biology2022

The conservation of human functional variants and their effects across livestock species.

Rongrong Zhao, Andrea Talenti, Lingzhao Fang, Shuli Liu, George Liu, Neil P Chue Hong, Albert Tenesa, Musa Hassan, James G D Prendergast

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

15 citing papers in PubMed, 30 citations in OpenAlex.

  1. Review
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  3. Integrating extensive functional annotations and multiomics of cattle enhances climate resilience prediction and mapping.Proceedings of the National Academy of Sciences of the United States of America · 2025
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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

9 authors at 3 institutions in 3 countries.

Rongrong ZhaoThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.
Andrea TalentiThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.ORCID 0000-0003-1309-3667
Lingzhao FangThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.
Shuli LiuWestlake Laboratory of Life Sciences and Biomedicine, Hangzhou, Zhejiang, 310024, China.
George LiuAnimal Genomics and Improvement Laboratory, Henry A. Wallace Beltsville Agricultural Research Center, Agricultural Research Service, Agricultural Research Service, USDA, Beltsville, Maryland, 20705, USA.
Neil P Chue HongEPCC, Bayes Centre, 47 Potterrow, Edinburgh, EH8 9BT, UK.ORCID 0000-0002-8876-7606
Albert TenesaThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.ORCID 0000-0003-4884-4475
Musa HassanThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK.
James G D PrendergastThe Roslin Institute, University of Edinburgh, Easter Bush Campus, Midlothian, EH25 9RG, UK. james.prendergast@roslin.ed.ac.uk.ORCID 0000-0001-8916-018X
Roslin Institute · GBAgricultural Research Service · USWestlake University · CN

Funding

Biotechnology and Biological Sciences Research Council BBS/E/D/10002070Biotechnology and Biological Sciences Research Council BB/W000288/1
6 · The paper itself

Abstract

Despite the clear potential of livestock models of human functional variants to provide important insights into the biological mechanisms driving human diseases and traits, their use to date has been limited. Generating such models via genome editing is costly and time consuming, and it is unclear which variants will have conserved effects across species. In this study we address these issues by studying naturally occurring livestock models of human functional variants. We show that orthologues of over 1.6 million human variants are already segregating in domesticated mammalian species, including several hundred previously directly linked to human traits and diseases. Models of variants linked to particular phenotypes, including metabolomic disorders and height, are preferentially shared across species, meaning studying the genetic basis of these phenotypes is particularly tractable in livestock. Using machine learning we demonstrate it is possible to identify human variants that are more likely to have an existing livestock orthologue, and, importantly, we show that the effects of functional variants are often conserved in livestock, acting on orthologous genes with the same direction of effect. Consequently, this work demonstrates the substantial potential of naturally occurring livestock carriers of orthologues of human functional variants to disentangle their functional impacts.

Indexed as

Gene EditingLivestockAnimalsHumansMammalsPhenotype

Identifiers

PMID36131008
PMCPMC9492664
OpenAlexW4296558835

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.