Buscar
Mostrando ítems 1-10 de 149
HLA-G variability and haplotypes detected by massively parallel sequencing procedures in the geographicaly distinct population samples of Brazil and Cyprus
(2017-03-01)
The HLA-G molecule presents immunomodulatory properties that might inhibit immune responses when interacting with specific Natural Killer and T cell receptors, such as KIR2DL4, ILT2 and ILT4. Thus, HLA-G might influence ...
Hla-mapper: An application to optimize the mapping of HLA sequences produced by massively parallel sequencing procedures
(2018-09-01)
A challenging task when more than one HLA gene is evaluated together by second-generation sequencing is to achieve a reliable read mapping. The polymorphic and repetitive nature of HLA genes might bias the read mapping ...
HLA-F coding and regulatory segments variability determined by massively parallel sequencing procedures in a Brazilian population sample
(2016-10-01)
Human Leucocyte Antigen F (HLA-F) is a non-classical HLA class I gene distinguished from its classical counterparts by low allelic polymorphism and distinctive expression patterns. Its exact function remains unknown. It ...
Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer
(MDPI. International Journal of Environmental Research and Public Health, 2023)
The molecular complexity of primary ovarian insufficiency aetiology and the use of massively parallel sequencing
Primary ovarian insufficiency (POI) is a frequently occurring pathology, leading to infertility. Genetic anomalies have been described in POI and mutations in numerous genes have been definitively related to the pathogenesis ...
Analysis and comparison of the STR genotypes called with HipSTR, STRait Razor and toaSTR by using next generation sequencing data in a Brazilian population sample
(2022-05-01)
Short tandem repeats (STRs) are particularly difficult to genotype with rapid evolving next-generation sequencing (NGS) technology. Long amplicons containing repetitive sequences result in alignment and genotyping errors. ...
Applicability of the SNPforID 52-plex panel for human identification and ancestry evaluation in a Brazilian population sample by next-generation sequencing
(2019-05-01)
SNP analysis is of paramount importance in forensic genetics. The development of new technologies in next-generation sequencing allowed processing a large number of markers in various samples simultaneously. Although SNPs ...
Prediction of eye and hair pigmentation phenotypes using the HIrisPlex system in a Brazilian admixed population sample
(2021-01-01)
Human pigmentation is a complex trait, probably involving more than 100 genes. Predicting phenotypes using SNPs present in those genes is important for forensic purpose. For this, the HIrisPlex tool was developed for eye ...