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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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 […]

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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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