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 […]

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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 […]

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Start-loss mutations in rare diseases

Mutations are inheritable changes in the DNA sequence. Mutations can be of different size and may affect a single gene (genic mutations), one or more chromosomes in their structure (chromosomal aberrations), or one or more chromosomes in number (genomic aneuploidies). Genic mutations involve one or few single nucleotides. So they can be consistent with point […]

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