Evidence map›Paper›PMID 33167856›Full record

ArticleBMC genomics2020

Investigating the accuracy of imputing autosomal variants in Nellore cattle using the ARS-UCD1.2 assembly of the bovine genome.

Isis da Costa Hermisdorff, Raphael Bermal Costa, Lucia Galvão de Albuquerque, Hubert Pausch, Naveen Kumar Kadri

Abstract read
In one paragraph

Article in BMC genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers, 1 of them a synthesis that pooled it.

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2citing papers in PubMed, 1 pooled it
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1 · What the graph read from it

What it found

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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

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3 · Its place in the literature

Who cites it

2 citing papers in PubMed, 1 synthesis or guideline pooled it.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Isis da Costa HermisdorffSchool of Veterinary Medicine and Animal Science, Federal University of Bahia (UFBA), Salvador, Brazil.
Raphael Bermal CostaSchool of Veterinary Medicine and Animal Science, Federal University of Bahia (UFBA), Salvador, Brazil.
Lucia Galvão de AlbuquerqueAnimal Science Department, School of Agricultural and Veterinary Sciences, São Paulo State University (Unesp), Jaboticabal, São Paulo, Brazil.
Hubert PauschAnimal Genomics, ETH Zurich, Zurich, Switzerland.
Naveen Kumar KadriAnimal Genomics, ETH Zurich, Zurich, Switzerland. naveen.kadri@usys.ethz.ch.ORCID http://orcid.org/0000-0002-2799-3896

Funding

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior 88881.187109/2018-01Fundação de Amparo à Pesquisa do Estado de São Paulo (BR) 2009/16118-5
6 · The paper itself

Abstract

backgroundImputation accuracy among other things depends on the size of the reference panel, the marker's minor allele frequency (MAF), and the correct placement of single nucleotide polymorphism (SNP) on the reference genome assembly. Using high-density genotypes of 3938 Nellore cattle from Brazil, we investigated the accuracy of imputation from 50 K to 777 K SNP density using Minimac3, when map positions were determined according to the bovine genome assemblies UMD3.1 and ARS-UCD1.2. We assessed the effect of reference and target panel sizes on the pre-phasing based imputation quality using ten-fold cross-validation. Further, we compared the reliability of the model-based imputation quality score (Rsq) from Minimac3 to the empirical imputation accuracy.

resultsThe overall accuracy of imputation measured as the squared correlation between true and imputed allele dosages (R

conclusionsAccurate imputation of BovineHD BeadChip markers is possible in Nellore cattle using the new bovine reference genome assembly ARS-UCD1.2. The use of large reference and target panels improves the accuracy of the imputed genotypes and provides genotypes for more markers segregating at low frequency for downstream genomic analyses. The model-based imputation quality score from Minimac3 (Rsq) can be used to detect poorly imputed variants but its reliability depends on the size of the reference panel and MAF of the imputed variants.

Indexed as

Polymorphism, Single NucleotideAnimalsBrazilCattleGene FrequencyGenotypeReproducibility of Results

Identifiers

PMID33167856
PMCPMC7654006

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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.