Nanopore Digest: 18th January 2019
Fri 18th January 2019
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Systematic analysis of dark and camouflaged genes: disease-relevant genes hiding in plain sight
The human genome contains 'dark' regions which are those that cannot be assembled or aligned using short-read sequencing. These regions could harbour mutations associated with disease and therefore techniques enabling their accurate analysis is highly valuable. In this pre-print Ebbert et al. describe using long-reads to resolve dark regions in short-read sequencing data. Nanopore sequencing resolved 81.8% of dark coding sequences and was the only technology capable of fully addressing the three example gene regions presented.
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