Long Read Sequencing
August 15, 2017 | Terry Sharrer
Carney complex is a rare genetic disease that presents multiple benign tumors in the heart, skin and other tissues along with abnormalities in skin coloration. It arises from a mutation in the PRKAR1A gene, which wasn’t found using DNA short read sequencing. Stanford investigators upped the length of sequencing fragment to several thousand BPs, and in that way identified a missing segment of around 2000 bases. They believe long read sequencing will open many new insights into the genetics of diseases and heritable traits. MORE
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