5 Matching Annotations
  1. Jun 2023
    1. Effective permissions are the roles and data restrictions that a member is assigned via other resources (like the organization, a user group, or an account that includes the current property) plus all the direct permissions assigned explicitly for the current resource. Direct permissions are role and data restrictions that a member is assigned explicitly for the current resource (e.g., organization, account, property).
  2. May 2023
    1. Figure 1Optical genome mapping reveals 173 Mb pericentric inversion on chromosome 1 with a breakpoint within the USH2A gene.

      Optical Genome mapping can detect balanced structural variant as shown in previous studies. Fadaie Z, et al; 2021 amazingly identified an intragenic inverted duplication by OGM and Long read sequencing (Pacbio).

    2. Structural variants (SVs) play an important role in inherited retinal diseases (IRD).

      Structural variants, specifically CNVs (Copy Number Variants) contribute to more than 10% of undiagnosed IRD cases

  3. Mar 2021
    1. Alalu baayam la donn.

      Il a hérité des biens de son père.

      alal+u (alal) ji -- property, fortune. 💰

      baay+am (baay) bi -- dad (his). 👨‍👦

      la -- he (?).

      donn v. -- to inherit.


  4. Oct 2020
    1. Informative data about objects that are considered prototypes for the role. Base concept is similar to type, but without inheritance of limitations and properties. Base concepts are designed as a substitute for inheritance for external concepts. A base concept is like a related concept except that the base concept is almost identical to the role definition.