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Diagnostics Genetics and epigenetics, Biochemistry and molecular biology, Omics, Technology and innovation

SMRT Long-Read Sequencing Solves Genetic Mysteries

Technologies for diagnosing rare genetic disorders are rapidly advancing. Next-generation sequencing can identify many, but not all such disorders. A new approach – SMRT sequencing – uses longer reads and can identify previously undetectable mutations.

We are in a golden age of rare disease research. Never before have our laboratory techniques been so successful at identifying rare diseases and elucidating their underlying biological causes. The knowledge we obtain today opens the door to new treatments, giving hope to people who suffer from these rare disorders.

Many of the recent advances in rare disease research stem from technology innovations in DNA sequencing. Falling costs have increased access to whole exome and whole genome sequencing as tools to assess the genetic basis of individual rare disease cases. And in a relatively short time, the genome-scale data these methods produce has transformed the community’s understanding of how these diseases arise through rare genetic mutations. There are now more than 7,000 known rare and Mendelian genetic diseases identified – with more added to the databases every year – providing an invaluable information resource for genome-wide screening and exploration.

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About the Author

Luke Hickey

Senior Director of Strategic Marketing at Pacific Biosciences, Menlo Park, California, USA.

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