Loading...
3 results
Search Results
Now showing 1 - 3 of 3
- The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testingPublication . Baixia, Márcia; Sousa, Sónia; Pina, Maria J.; Silva, Raquel M; Cirnes, Luís; Canedo, Paulo; Castedo, Sérgio; Machado, José C,Introduction: Genetic testing of cardiomyopathies went through major changes in the last few years, from sequential Sanger sequencing of the most likely gene candidates, to multigene panels by NGS, with an ever increasing number of genes analyzed.
- Impact of different storage conditions of formamide in the quality of sequencesPublication . Moura, Daniela; Pina, Maria João; Pereira, Cátia; Baixia, Márcia; Leal, Rafaela; Sousa, Sónia; Vieira, Filipa Quintela; Silva, Regina; Cirnes, LuísObtaining high quality sequences is essential to proper reading and interpretation. A crucial step for this goal is the denaturation of sequencing products which is usually performed using a denaturing agent such as formamide. It has been described that the reduction of formamide quality may cause irregular cytosine and guanine peaks in an electropherogram.According to manufacturers recomendations, formamide should be stored at -20ºC. Under other conditions such as exposition to light and air and temperature changes for a certain period of time, quality may decrease. Objectives: The purpose of this study was to understand which formamide storage-related variables can be responsible for decreasing sequence quality.
- Effects of different storage conditions of sequencing products with formamide in the quality of sequences.Publication . Moura, Daniela; Pina, Maria João; Pereira, Cátia; Baixia, Márcia; Leal, Rafaela; Sousa, Sónia; Vieira, Filipa Quintela; Silva, Regina; Cirnes, LuísDNA sequencing is widely used in molecular diagnosis and good sequence quality is crucial to a correct interpretation. It has been described that formamide quality decrease and sequencing reactions exposure to light, heat and/or oxygen can cause irregular peaks of cytosine and guanine in electropherograms. In a previous study, we concluded that despite the presence of this artifact when formamide is stored under non-ideal conditions, it does not significantly reduce the quality of the sequences.