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 | Acesso ao texto completo restrito à biblioteca da Embrapa Gado de Leite. Para informações adicionais entre em contato com cnpgl.biblioteca@embrapa.br. |
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Registro Completo |
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Biblioteca(s): |
Embrapa Gado de Leite. |
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Data corrente: |
07/12/2016 |
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Data da última atualização: |
06/02/2024 |
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Tipo da produção científica: |
Artigo em Periódico Indexado |
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Autoria: |
UTSUNOMIYA, A. T. H.; SANTOS, D. J. A.; BOISON, S. A.; UTSUNOMIYA, Y. T.; MILANESI, M.; BICKHART, D. M.; AJMONE-MARSAN, P.; SOLKNER, J.; GARCIA, J. F.; FONSECA, R. da; SILVA, M. V. G. B. |
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Afiliação: |
Adam T. H. Utsunomiya, UNESP; Daniel J. A. Santos, UNESP; Solomon A. Boison, Nofima, Ås, Norway; Yuri T. Utsunomiya, UNESP; Marco Milanesi, UNESP; Derek M. Bickhart, ARS, USDA, Beltsville; Paolo Ajmone-Marsan, Università Cattolica del Sacro Cuore, Piacenza, Italy; Johann Sölkner, BOKU - University of Natural Resources and Life Sciences, Vienna, Austria; José F. Garcia, UNESP / IAEA; Ricardo da Fonseca, UNESP; MARCOS VINICIUS GUALBERTO B SILVA, CNPGL. |
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Título: |
Revealing misassembled segments in the bovine reference genome by high resolution linkage disequilibrium scan. |
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Ano de publicação: |
2016 |
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Fonte/Imprenta: |
BMC Genomics, v. 17, article 705, 2016. |
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DOI: |
https://doi.org/10.1186/s12864-016-3049-8 |
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Idioma: |
Inglês |
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Conteúdo: |
Background- Misassembly signatures, created by shuffling the order of sequences while assembling a genome, can be detected by the unexpected behavior of marker linkage disequilibrium (LD) decay. We developed a heuristic process to identify misassembly signatures, applied it to the bovine reference genome assembly (UMDv3.1) and presented the consequences of misassemblies in two case studies. Results -We identified 2,906 single nucleotide polymorphism (SNP) markers presenting unexpected LD decay behavior in 626 putative misassembled contigs, which comprised less than 1 % of the whole genome. Although this represents a small fraction of the reference sequence, these poorly assembled segments can lead to severe implications to local genome context. For instance, we showed that one of the misassembled regions mapped to the POLL locus, which affected the annotation of positional candidate genes in a GWAS case study for polledness in Nellore (Bos indicus beef cattle). Additionally, we found that poorly performing markers in imputation mapped to putative misassembled regions, and that correction of marker positions based on LD was capable to recover imputation accuracy. Conclusions - This heuristic approach can be useful to cross validate reference assemblies and to filter out markers located at low confidence genomic regions before conducting downstream analyses. |
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Palavras-Chave: |
GWAS; Imputation; Misassembly. |
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Thesagro: |
Bos Indicus; Bos Taurus. |
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Thesaurus Nal: |
Genome; linkage disequilibrium. |
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Categoria do assunto: |
L Ciência Animal e Produtos de Origem Animal |
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Marc: |
LEADER 02353naa a2200337 a 4500
001 2058210
005 2024-02-06
008 2016 bl uuuu u00u1 u #d
024 7 $ahttps://doi.org/10.1186/s12864-016-3049-8$2DOI
100 1 $aUTSUNOMIYA, A. T. H.
245 $aRevealing misassembled segments in the bovine reference genome by high resolution linkage disequilibrium scan.$h[electronic resource]
260 $c2016
520 $aBackground- Misassembly signatures, created by shuffling the order of sequences while assembling a genome, can be detected by the unexpected behavior of marker linkage disequilibrium (LD) decay. We developed a heuristic process to identify misassembly signatures, applied it to the bovine reference genome assembly (UMDv3.1) and presented the consequences of misassemblies in two case studies. Results -We identified 2,906 single nucleotide polymorphism (SNP) markers presenting unexpected LD decay behavior in 626 putative misassembled contigs, which comprised less than 1 % of the whole genome. Although this represents a small fraction of the reference sequence, these poorly assembled segments can lead to severe implications to local genome context. For instance, we showed that one of the misassembled regions mapped to the POLL locus, which affected the annotation of positional candidate genes in a GWAS case study for polledness in Nellore (Bos indicus beef cattle). Additionally, we found that poorly performing markers in imputation mapped to putative misassembled regions, and that correction of marker positions based on LD was capable to recover imputation accuracy. Conclusions - This heuristic approach can be useful to cross validate reference assemblies and to filter out markers located at low confidence genomic regions before conducting downstream analyses.
650 $aGenome
650 $alinkage disequilibrium
650 $aBos Indicus
650 $aBos Taurus
653 $aGWAS
653 $aImputation
653 $aMisassembly
700 1 $aSANTOS, D. J. A.
700 1 $aBOISON, S. A.
700 1 $aUTSUNOMIYA, Y. T.
700 1 $aMILANESI, M.
700 1 $aBICKHART, D. M.
700 1 $aAJMONE-MARSAN, P.
700 1 $aSOLKNER, J.
700 1 $aGARCIA, J. F.
700 1 $aFONSECA, R. da
700 1 $aSILVA, M. V. G. B.
773 $tBMC Genomics$gv. 17, article 705, 2016.
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Registro original: |
Embrapa Gado de Leite (CNPGL) |
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| Registros recuperados : 4 | |
| 1. |  | CHUD, T. C. S.; BICKHART, D. M.; ZERLOTINI NETO, A.; COLE, J. B.; SILVA, M. V. G. B.; MUNARI, D. P. Copy number variation in dairy cattle using next-generation sequencing. In: PLANT AND ANIMAL GENOME CONFERENCE, 26., 2018, San Diego. Abstracts... [S.l.: s.n.], 2018. 1 p. PAG 2018. P0490. Na publicação: Adhemar Zerlotini, Marcos Vinicius B. da Silva.| Tipo: Resumo em Anais de Congresso |
| Biblioteca(s): Embrapa Agricultura Digital. |
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| 2. | | O'BRIEN, A. M. P.; UTSUNOMIYA, Y. T.; MÉSZÁROS, G.; BICKHART, D. M.; LIU, G. E.; TASSEL, C. P. V.; SONSTEGARD, T. S.; SILVA, M. V. G. B.; GARCIA, J. F.; SÖLKNER, J. Assessing signatures of selection through variation in linkage disequilibrium between taurine and indicine cattle. Genetics Selection Evolution, v. 46, n. 19, 2014. 14 p.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: B - 4 |
| Biblioteca(s): Embrapa Gado de Leite. |
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| 3. | | PORTO-NETO, L. R.; SONSTEGARD, T. S.; LIU, G. E.; BICKHART, D. M.; SILVA, M. V. G. B.; MACHADO, M. A.; UTSUNOMIYA, Y. T.; GARCIA, J. F.; GONDRO, C.; VAN TASSELL, C. P. Genomic divergence of zebu and taurine cattle identified through high-density SNP genotyping. BMC Genomics, v. 14, article 876, 2013. Disponível em: http://www.biomedcentral.com/1471-2164/14/876| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
| Biblioteca(s): Embrapa Gado de Leite. |
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| 4. | | UTSUNOMIYA, A. T. H.; SANTOS, D. J. A.; BOISON, S. A.; UTSUNOMIYA, Y. T.; MILANESI, M.; BICKHART, D. M.; AJMONE-MARSAN, P.; SOLKNER, J.; GARCIA, J. F.; FONSECA, R. da; SILVA, M. V. G. B. Revealing misassembled segments in the bovine reference genome by high resolution linkage disequilibrium scan. BMC Genomics, v. 17, article 705, 2016.| Tipo: Artigo em Periódico Indexado | Circulação/Nível: A - 1 |
| Biblioteca(s): Embrapa Gado de Leite. |
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| Registros recuperados : 4 | |
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| Nenhum registro encontrado para a expressão de busca informada. |
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