What does “coverage” mean? 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
Mechanisms of inheritance: a more complex situation than expected The first studies on inheritance were conducted by Gregor Mendel, the father of Genetics. He discovered that phenotypic traits (e.g. hair or eye color) where defined by the genes (DNA). Each gene has two alleles, one inherited from the mother and one inherited from the father.
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) •
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
WE FIND MUTATIONS
©2022 All right reserved Breda Genetics – Single member limited liability company, Share Capital: 10,000.00 € f.p., REA: BS – 559902, VAT Number and Tax Code: IT03749940981
We regularly send specific information for Patients and Professionals with updates and news.
No Spam, that's information.
