Genetic disorders have always existed, but nowadays we have more knowledge and tools to predict them. Thanks to the advance in bioinformatics, genomics has become key for genetic disorders diagnosis and prevention.
At Sequentia, we are constantly developing new pipelines and innovative solutions to contribute with diagnostics improvement.
Moreover, our bioinformatics pipeline supports assisted human reproduction, by collaborating with diagnostic centers specialized in fertility, helping them to identify possible gene mutations that can lead to genetic disorders. Our goal is to provide efficient and accurate analysis to help geneticists in their diagnosis, by giving them support with NGS data analysis and customized results exploration platform to navigate their results.