Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting (2017)
- Authors:
- USP affiliated authors: COSTA, SILVIA SOUZA DA - IB ; MORGANTE, ANGELA MARIA VIANNA - IB ; KREPISCHI, ANA CRISTINA VICTORINO - IB ; ROSENBERG, CARLA - IB
- Unidade: IB
- DOI: 10.1016/j.ejmg.2017.08.020
- Subjects: CITOGENÉTICA MOLECULAR; SEQUÊNCIA DO DNA; GENOMAS; ANORMALIDADES CROMOSSÔMICAS; NUCLEOTÍDEOS
- Keywords: Exome sequencing; Targeted sequencing; DNA copy number variations; CNVs; Single nucleotide variants; SNVs; Chromosomal imbalances
- Language: Inglês
- Imprenta:
- Publisher place: Issy les Moulineaux
- Date published: 2017
- Source:
- Título do periódico: European Journal of Medical Genetics
- ISSN: 1769-7212
- Volume/Número/Paginação/Ano: v. 60, n. 12, p. 667-674, Dec. 2017
- Este periódico é de assinatura
- Este artigo NÃO é de acesso aberto
- Cor do Acesso Aberto: closed
-
ABNT
VILLELA, Darine et al. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, v. 60, n. 12, p. 667-674, 2017Tradução . . Disponível em: https://doi.org/10.1016/j.ejmg.2017.08.020. Acesso em: 19 set. 2024. -
APA
Villela, D., Costa, S. S., Vianna-Morgante, A. M., Krepischi, A. C. V., & Rosenberg, C. (2017). Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting. European Journal of Medical Genetics, 60( 12), 667-674. doi:10.1016/j.ejmg.2017.08.020 -
NLM
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.[citado 2024 set. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2017.08.020 -
Vancouver
Villela D, Costa SS, Vianna-Morgante AM, Krepischi ACV, Rosenberg C. Efficient detection of chromosome imbalances and single nucleotide variants using targeted sequencing in the clinical setting [Internet]. European Journal of Medical Genetics. 2017 ; 60( 12): 667-674.[citado 2024 set. 19 ] Available from: https://doi.org/10.1016/j.ejmg.2017.08.020 - Does increase in genomic microarray resolution result in increased diagnostic yield?
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Informações sobre o DOI: 10.1016/j.ejmg.2017.08.020 (Fonte: oaDOI API)
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