Short sleepers: awake after just 6 hours of sleep!

It seems we have discovered the reason why some people, being a "short sleeper", need just 6 hours of sleep, being well awake at 5 o'clock in the morning! So, if we'll be late in the morning, we'll be able to say that it's not our fault, it's a matter of Genetics instead! So, let's […]

Continue reading

Low-pass genome sequencing: a new perspective for genome-wide CNV analysis

Next-generation sequencing (NGS) has completely transformed the world of genetic testing, enabling us to sequence human whole exome or whole genome in one single experiment at an unprecedented scale, capacity and convenience. High-throughput sequencing based on short reads has empowered laboratories worldwide. We can now sift a huge amount of data to single out pathogenic […]

Continue reading

CNV analysis: a chimera?

The term Copy Number Variations (CNVs) is traditionally referring to intermediate-scale large deletions/duplications of 1 kb to 5 kb in size. However, in practice, when the analysis is based on data from Next Generation Sequencing (NGS), CNV is used every day more to identify deletions/duplications of any size larger than 50 bp, from one single […]

Continue reading