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Molecular Profiling of Tumor Tissue in Mexican Patients with Colorectal Cancer
(MDPI. International Journal of Environmental Research and Public Health, 2023)
Clinical interpretation and management of genetic variants
Genetic variants are major determinants of susceptibility to disease, response to therapy, and clinical outcomes. Advances
in the short-read sequencing technologies, despite some shortcomings, have enabled identification ...
Small genetic variation affecting mRNA isoforms associated with marbling and meat color in beef cattle
(2022-01-01)
The aim of this study was to identify mRNA isoforms and small genetic variants that may be affecting marbling and beef color in Nellore cattle. Longissimus thoracis muscle samples from 20 bulls with different phenotypes ...
Set-theory based benchmarking of three different variant callers for targeted sequencing
(2021)
Background: Next generation sequencing (NGS) technologies have improved the
study of hereditary diseases. Since the evaluation of bioinformatics pipelines is not
straightforward, NGS demands efective strategies to analyze ...
EBNA-1 gene sequences in Brazilian and American patients with Hodgkin's disease
(Amer Soc Hematology, 1999-07-01)
We examined the types of Epstein-Barr virus-associated nuclear antigen-1 (EBNA-1) gene carboxy (C)-terminal mutations occurring in Hodgkin's disease (HD) and reactive tissues from two different geographic regions. Previously ...
EBNA-1 gene sequences in Brazilian and American patients with Hodgkin's disease
(Amer Soc Hematology, 1999-07-01)
We examined the types of Epstein-Barr virus-associated nuclear antigen-1 (EBNA-1) gene carboxy (C)-terminal mutations occurring in Hodgkin's disease (HD) and reactive tissues from two different geographic regions. Previously ...
Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss.
(Springer, 2023)
Hearing loss (HL) is a common heterogeneous trait that involves variants in more than 200 genes. In this study, we utilized exome (ES) and genome sequencing (GS) to effectively identify the genetic cause of presumably ...
MutaBind estimates and interprets the effects of sequence variants on protein-protein interactions
(Oxford University Press, 2016-05)
Proteins engage in highly selective interactions with their macromolecular partners. Sequence variants that alter protein binding affinity may cause significant perturbations or complete abolishment of function, potentially ...