Evidence map›Paper›PMID 23442346›Full record

ArticleBMC genomics2013

Genome-wide detection of copy number variations using high-density SNP genotyping platforms in Holsteins.

Li Jiang, Jicai Jiang, Jie Yang, Xuan Liu, Jiying Wang, Haifei Wang, Xiangdong Ding, Jianfeng Liu, Qin Zhang

Open access · goldAbstract read
In one paragraph

Article in BMC genomics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.

0numbers the graph read from it
0cells of the map it votes in
57citing papers in PubMed
9.0field-weighted citation impact, top 2% of its field
1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

Who cites it

57 citing papers in PubMed, 116 citations in OpenAlex.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Li JiangKey Laboratory of Animal Genetics, Breeding and Reproduction, Ministry of Agriculture, College of Animal Science and Technology, China Agricultural University, Beijing, 100193, PR China.
Jicai Jiang
Jie Yang
Xuan Liu
Jiying Wang
Haifei Wang
Xiangdong Ding
Jianfeng Liu
Qin Zhang
China Agricultural University · CNShandong Academy of Agricultural Sciences · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCopy number variations (CNVs) are widespread in the human or animal genome and are a significant source of genetic variation, which has been demonstrated to play an important role in phenotypic diversity. Advances in technology have allowed for identification of a large number of CNVs in cattle. Comprehensive explore novel CNVs in the bovine genome would provide valuable information for functional analyses of genome structural variation and facilitating follow-up association studies between complex traits and genetic variants.

resultsIn this study, we performed a genome-wide CNV detection based on high-density SNP genotyping data of 96 Chinese Holstein cattle. A total of 367 CNV regions (CNVRs) across the genome were identified, which cover 42.74 Mb of the cattle genome and correspond to 1.61% of the genome sequence. The length of the CNVRs on autosomes range from 10.76 to 2,806.42 Kb with an average of 96.23 Kb. 218 out of these CNVRs contain 610 annotated genes, which possess a wide spectrum of molecular functions. To confirm these findings, quantitative PCR (qPCR) was performed for 17 CNVRs and 13(76.5%) of them were successfully validated.

conclusionsOur study demonstrates the high density SNP array can significantly improve the accuracy and sensitivity of CNV calling. Integration of different platforms can enhance the detection of genomic structure variants. Our results provide a significant replenishment for the high resolution map of copy number variation in the bovine genome and valuable information for investigation of genomic structural variation underlying traits of interest in cattle.

Indexed as

DNA Copy Number VariationsPolymorphism, Single NucleotideAnimalsCattleChinaChromosomes, MammalianComparative Genomic HybridizationFemaleGenomeGenomicsGenomic Structural VariationGenotypeMaleMolecular Sequence AnnotationX Chromosome

Identifiers

PMID23442346
PMCPMC3639935
OpenAlexW2127612936

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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.