Although NGS technology is increasingly available in clinical settings, the main challenge remains the interpretation of sequencing data, especially when it comes to larger data sets, such as exomes and genomes. The MedSeq Project examined the...

As a result of little standardization, large amount of new scientific findings generated almost every day and an explosion of sequencing data for various purposes, the landscape of human genomics is quite fragmented, siloed, and inconsistent. We all...

As a researcher or medical professional, you may encounter a rare variant which you have never seen before. Collecting information about such a variant may take you a lot of time without any guarantee that you will find what you need. However, if...