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Genetics

  • Functionally diverse type V CRISPR-Cas systems

    DOI: 10.1126/science.aav7271

  • Quantifying the contribution of recessive coding variation to developmental disorders

    Exome sequencing of more than 6000 families identifies a lower rate of recessive inheritance than previously estimated.

  • Early human dispersals within the Americas

    Ancient genomes from the Americas show a complex genetic history giving rise to present-day diversity.

  • Human tumor genomics and zebrafish modeling identify SPRED1 loss as a driver of mucosal melanoma

    Many mucosal melanomas show loss or inactivation of SPRED1, a gene encoding a negative regulator of RAS/MAPK signaling.

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