Coverage in next-generation sequencing

Although the meaning of the term “coverage” may seem very simple, this term is often misused. In the context of Next-Generation Sequencing (NGS), coverage indicates the average number of reads that "cover" a specific target region. Coverage therefore always describes a relationship between the number of reads and a reference region and can be expressed […]

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

Segmental duplications

Segmental duplications (also known as or low-copy repeats) are DNA fragments longer than 1 Kbp (i.e. 1,000 base pairs), distributed within and between chromosomes and sharing more than 90% genomic sequence identity. They are thought to hold a significant role in evolution and adaptability, although their functional significance remains largely unknown, also due to the […]

Continue reading