May 17, 2021  |  Presentation

Increasing Solve Rates in Rare and Mendelian Disease Research with Long-Read Sequencing

In this talk, Dr. Ekholm describes how long-read sequencing is being incorporated for rare Mendelian disease research, why high accuracy matters in long-read sequencing, what can be detected with HiFi reads that is missed with standard sequencing methods, and finally, how long-read sequencing can help increase the solve rates for rare and Mendelian diseases.

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