Evidence map›Paper›PMID 22300768›Full record

ArticleGenome research2012

Copy number variation of individual cattle genomes using next-generation sequencing.

Derek M Bickhart, Yali Hou, Steven G Schroeder, Can Alkan, Maria Francesca Cardone, Lakshmi K Matukumalli, Jiuzhou Song, Robert D Schnabel, Mario Ventura, Jeremy F Taylor and 5 more

Open access · bronzeAbstract read
In one paragraph

Article in Genome research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 175 papers.

0numbers the graph read from it
0cells of the map it votes in
175citing papers in PubMed
–field-weighted citation impact
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

175 citing papers in PubMed, 330 citations in OpenAlex.

  1. Association ofAnimals : an open access journal from MDPI · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Genome-wide detection of copy number variations in indigenous Red Sindhi cattle using ddRAD sequencing.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
  8. Mapping copy number variable regions correlated with reproduction and production traits in Karan Fries cattle mammalian genomics.Mammalian genome : official journal of the International Mammalian Genome Society · 2025
    Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

115 more citing papers are in PubMed but not listed here.

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

15 authors at 7 institutions in 4 countries.

Derek M BickhartUSDA-ARS, ANRI, Bovine Functional Genomics Laboratory, Beltsville, Maryland 20705, USA.
Yali Hou
Steven G Schroeder
Can Alkan
Maria Francesca Cardone
Lakshmi K Matukumalli
Jiuzhou Song
Robert D Schnabel
Mario Ventura
Jeremy F Taylor
Jose Fernando Garcia
Curtis P Van Tassell
Tad S Sonstegard
Evan E Eichler
George E Liu
University of Maryland, College Park · USUniversity of Missouri · USBilkent University · TRHoward Hughes Medical Institute · USUniversidade Estadual Paulista (Unesp) · BRUniversity of Bari Aldo Moro · ITUniversity of Washington · US

Funding

Sequence and Assembly of Segmental DuplicationsR01HG002385 · NHGRI · UNIVERSITY OF WASHINGTON · PI Evan Eichler · 2001 to 2026
$13.3M
MECHANISM &INSTABILITY OF PERICENTROMERIC DUPLICATIONSR01GM058815 · NIGMS · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 1999 to 2010
$2.9M
Howard Hughes Medical InstituteNHGRI NIH HHS HG002385NHGRI NIH HHS R01 HG002385NIGMS NIH HHS GM058815NIGMS NIH HHS R01 GM058815
6 · The paper itself

Abstract

Copy number variations (CNVs) affect a wide range of phenotypic traits; however, CNVs in or near segmental duplication regions are often intractable. Using a read depth approach based on next-generation sequencing, we examined genome-wide copy number differences among five taurine (three Angus, one Holstein, and one Hereford) and one indicine (Nelore) cattle. Within mapped chromosomal sequence, we identified 1265 CNV regions comprising ~55.6-Mbp sequence--476 of which (~38%) have not previously been reported. We validated this sequence-based CNV call set with array comparative genomic hybridization (aCGH), quantitative PCR (qPCR), and fluorescent in situ hybridization (FISH), achieving a validation rate of 82% and a false positive rate of 8%. We further estimated absolute copy numbers for genomic segments and annotated genes in each individual. Surveys of the top 25 most variable genes revealed that the Nelore individual had the lowest copy numbers in 13 cases (~52%, χ(2) test; P-value <0.05). In contrast, genes related to pathogen- and parasite-resistance, such as CATHL4 and ULBP17, were highly duplicated in the Nelore individual relative to the taurine cattle, while genes involved in lipid transport and metabolism, including APOL3 and FABP2, were highly duplicated in the beef breeds. These CNV regions also harbor genes like BPIFA2A (BSP30A) and WC1, suggesting that some CNVs may be associated with breed-specific differences in adaptation, health, and production traits. By providing the first individualized cattle CNV and segmental duplication maps and genome-wide gene copy number estimates, we enable future CNV studies into highly duplicated regions in the cattle genome.

Indexed as

DNA Copy Number VariationsAnimalsCattleChromosome MappingChromosomes, MammalianComparative Genomic HybridizationFatty Acid-Binding ProteinsFemaleGene DosageGene DuplicationGenomeGenomicsIn Situ Hybridization, FluorescenceMalePolymerase Chain ReactionSequence Analysis, DNAFatty Acid-Binding Proteins

Identifiers

PMID22300768
PMCPMC3317159
OpenAlexW2126653569

What OpenQuestion holds

Textmetadata
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.