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 […]

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Current methods for BRCA1/BRCA2 molecular analysis

Current Methods for BRCA1/BRCA2 molecular analysis BRCA testing is commonly performed by direct Sanger sequencing. This method is considered the ‘gold standard’ of DNA sequencing. It is technologically reliable, widely available, and has a relatively simple workflow. The drawbacks of Sanger sequencing are: • limited throughput • lower cost-effectiveness compared to next-generation sequencing (NGS) • […]

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NGS for dummies

Few simple words to explain NGS After years of Sanger sequencing being adopted as the gold standard in molecular diagnostics, Next Generation Sequencing (NGS) is about to finally an completely take over. NGS is also known as high-throughput sequencing (high yield sequencing) as it allows to sequence many fragments in parallel (which is impossible by traditional Sanger sequencing). There […]

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