Bioinformatics Pipelines and Systems Infrastructure
“The genetics industry is undergoing a fundamental shift from a clinical science focus to a bioinformatics focus. Genetic services require a greater level of data analytics sophistication than is required for other laboratory testing. Currently, data generated by new tests overwhelms current information technology systems and human interpretation capabilities. This is one of the reasons that we at Golden Helix strive to simplify the process of analyzing and interpreting the data so that it is possible for a wider group of users to conduct work in this space.”
“Ultimately, the output of the NGS pipeline needs to be integrated into the electronic health record and to be aggregated across a patient population. Robust informatics systems and trained bioinformaticians are critical new additions to the clinical team. Servant et al. (2014) covered this issue in detail. I agree with their findings. Here is the upshot.”
Read more from Our 2 SNPs… here.
Leave a Reply