ArticleFrontiers in veterinary science2024
Development and validation of animal variant classification guidelines to objectively evaluate genetic variant pathogenicity in domestic animals.
Article in Frontiers in veterinary science, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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.
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.
Who cites it
19 citing papers in PubMed.
- A Large-Scale Cross-Population Evaluation of Genetic Risk Variants for Dilated Cardiomyopathy in Dobermanns.Animal genetics · 2026Article
- The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications.Animal genetics · 2026Article
- Characterization of putative germline pathogenic variants in 27 candidate cancer-predisposing genes in 813 cats using a feline-specific multiplex targeted sequencing.Scientific reports · 2026Article
- An inherited SLC25A12-related recessive form of congenital porencephaly in Limousin cattle.Genetics, selection, evolution : GSE · 2026Article
- A New TYR Splice Donor Variant Causing Oculocutaneous Albinism Type I in Angus Cattle.Animal genetics · 2026Article
- NovelVeterinary and animal science · 2026Article
- Additional Evidence Fails to Associate Variation in KCNE4 With Equine Anhidrosis.Animal genetics · 2026Article
- A CACNA2D2-Related Recessive Form of Cerebellar Abiotrophy in Angus Cattle.Animal genetics · 2026Article
- LRP4-Related Lethal Syndromic Form of Syndactyly in Limousin Cattle.Animal genetics · 2026Article
- A variant in RESF1 is associated with Addison's disease and multiple autoimmune syndrome in young Nova Scotia Duck Tolling Retrievers.Scientific reports · 2026Article
- Whole genome sequencing in animal health: applications, challenges, and future directions.BMC veterinary research · 2026Review
- An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in "Blonde d'Aquitaine" calves.BMC veterinary research · 2026Article
- A novel frameshift variant in ALS2 associated with segmental axonopathy in Merino sheep.Genetics, selection, evolution : GSE · 2025Article
- Exploring skeletal disorders in cattle and sheep: a WGS-based framework for diagnosis and classification.Genetics, selection, evolution : GSE · 2025Article
- Rare phenotypes of white coat color in Simmental calves: genetic causes of syndromic forms of albinism and depigmentation.Molecular genetics and genomics : MGG · 2025Article
- Dominant blue eyes in Maine Coon cats: New PAX3 variant and updated phenotypic data.Animal genetics · 2025Article
- Epileptic encephalopathy in a young Bengal cat caused by CAD deficiency.Scientific reports · 2025Article
- Whole exome sequencing as a screening tool in dogs: A pilot study.Computational and structural biotechnology journal · 2025Article
- Myotonia Congenita in Australian Merino Sheep with a Missense Variant inAnimals : an open access journal from MDPI · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Assessing the pathogenicity of a disease-associated genetic variant in animals accurately is vital, both on a population and individual scale. At the population level, breeding decisions based on invalid DNA tests can lead to the incorrect inclusion or exclusion of animals and compromise the long-term health of a population, and at the level of the individual animal, lead to incorrect treatment and even life-ending decisions. Criteria to determine pathogenicity are not standardized, i.e., no guidelines for animal variants are available. Here, we aimed to develop and validate guidelines to be used by the community for Mendelian disorders in domestic animals to classify variants in categories based on standardized criteria. These so-called animal variant classification guidelines (AVCG) were based on those developed for humans by The American College of Medical Genetics and Genomics (ACMG). In a direct comparison, 83% of the pathogenic variants were correctly classified with ACMG, while this increased to 92% with AVCG. We described methods to develop datasets for benchmarking the criteria and identified the most optimal
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.