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  1. Article

    Open Access

    Applications of long-read sequencing to Mendelian genetics

    Advances in clinical genetic testing, including the introduction of exome sequencing, have uncovered the molecular etiology for many rare and previously unsolved genetic disorders, yet more than half of indivi...

    Francesco Kumara Mastrorosa, Danny E. Miller, Evan E. Eichler in Genome Medicine (2023)

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