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| Borges,Murilo G.; Rocha,Cristiane S.; Carvalho,Benilton S.; Lopes-Cendes,Iscia. |
| Abstract For a better interpretation of variants, evidence-based databases, such as ClinVar, compile data on the presumed relationships between variants and phenotypes. In this study, we aimed to analyze the pattern of sequencing depth in variants from whole-exome sequencing data in the 1000 Genomes project phase 3, focusing on the variants present in the ClinVar database that were predicted to affect protein-coding regions. We demonstrate that the distribution of the sequencing depth varies across different sequencing centers (pair-wise comparison, p < 0.001). Most importantly, we found that the distribution pattern of sequencing depth is specific to each facility, making it possible to correctly assign 96.9% of the samples to their sequencing center.... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Whole exome sequencing; Depth; ClinVar; Computational biology; Clinical genomics. |
| Ano: 2020 |
URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572020000400804 |
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| NOVOA HERRÁN,Sandra Susana; CASTELBLANCO,Mariela; SÁNCHEZ -GÓMEZ,Myriam; UMAÑA PÉREZ,Adriana. |
| ABSTRACT Invasion of trophoblast into endometrium is vital for successful pregnancy development. MMP9 and uPA are key proteases in this process, but it is still not clear the regulation of its expression by Transforming Growth Factor Beta (TGF-β), a known negative regulator of trophoblast invasion. We evaluated the effect of TGF-β on the transcriptional expression of uPA and MMP9 over time, in HTR-8/SVneo trophoblast cells cultured with or without 0.5 % fetal bovine serum, via RT qPCR. The involved transcription factors and signaling pathways were analyzed in silico, using Proscan, Enrich, PCViz and Wiki Pathway. Results showed that TGF-β temporarily regulates the expression of uPA and MMP9. Serum modified the nature of TGF-β's effects on uPA expression,... |
| Tipo: Info:eu-repo/semantics/article |
Palavras-chave: Computational biology; Matrix metalloproteinase; Placenta; Plasminogen; Polymerase chain reaction. |
| Ano: 2019 |
URL: http://www.scielo.org.co/scielo.php?script=sci_arttext&pid=S0120-548X2019000100026 |
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