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Registro Completo |
Biblioteca(s): |
Embrapa Gado de Leite. |
Data corrente: |
07/12/2016 |
Data da última atualização: |
06/02/2024 |
Tipo da produção científica: |
Artigo em Periódico Indexado |
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. |
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. |
Título: |
Revealing misassembled segments in the bovine reference genome by high resolution linkage disequilibrium scan. |
Ano de publicação: |
2016 |
Fonte/Imprenta: |
BMC Genomics, v. 17, article 705, 2016. |
DOI: |
https://doi.org/10.1186/s12864-016-3049-8 |
Idioma: |
Inglês |
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. |
Palavras-Chave: |
GWAS; Imputation; Misassembly. |
Thesagro: |
Bos Indicus; Bos Taurus. |
Thesaurus Nal: |
Genome; linkage disequilibrium. |
Categoria do assunto: |
L Ciência Animal e Produtos de Origem Animal |
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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Embrapa Gado de Leite (CNPGL) |
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| Acesso ao texto completo restrito à biblioteca da Embrapa Cerrados. Para informações adicionais entre em contato com cpac.biblioteca@embrapa.br. |
Registro Completo
Biblioteca(s): |
Embrapa Cerrados. |
Data corrente: |
01/04/1997 |
Data da última atualização: |
01/04/1997 |
Autoria: |
SANO, S. M.; SPEHAR, C. R.; VIVALDI, L. J. |
Título: |
Diversidade de frutos e sementes de baru (Dipteryx alata Vog). |
Ano de publicação: |
1996 |
Fonte/Imprenta: |
In: CONGRESSO SOCIEDADE BOTANICA DE SAO PAULO, 9., 1996, Sao Carlos. Programa e resumos. Sao Carlos: UFSCAR, 1996. |
Páginas: |
p.105. |
Idioma: |
Português |
Palavras-Chave: |
Baru; Brasil; Goias; Indigenous organisms; Planta nativa; Seed. |
Thesagro: |
Cerrado; Dipteryx Alata; Fruto; Morfologia Vegetal; Semente. |
Thesaurus NAL: |
Brazil; fruits; plant anatomy. |
Categoria do assunto: |
-- |
Marc: |
LEADER 00831naa a2200313 a 4500 001 1552617 005 1997-04-01 008 1996 bl uuuu u00u1 u #d 100 1 $aSANO, S. M. 245 $aDiversidade de frutos e sementes de baru (Dipteryx alata Vog). 260 $c1996 300 $ap.105. 650 $aBrazil 650 $afruits 650 $aplant anatomy 650 $aCerrado 650 $aDipteryx Alata 650 $aFruto 650 $aMorfologia Vegetal 650 $aSemente 653 $aBaru 653 $aBrasil 653 $aGoias 653 $aIndigenous organisms 653 $aPlanta nativa 653 $aSeed 700 1 $aSPEHAR, C. R. 700 1 $aVIVALDI, L. J. 773 $tIn: CONGRESSO SOCIEDADE BOTANICA DE SAO PAULO, 9., 1996, Sao Carlos. Programa e resumos. Sao Carlos: UFSCAR, 1996.
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