Sentence examples for variant descriptions of from inspiring English sources

Interestingly, one of the healthy Y791F-only Brazilian individuals reported in this study and the two unrelated Brazilian cases with sporadic MTC who also carried the variant (descriptions of these individuals are provided later in this report) were direct descendants of Germans.

The rest are due to rare genetic variants, descriptions of which are continuously increasing [11] [20].

One cluster describing a manifold of multipath components showing similar propagation parameters is described by only 21 parameters (see Table 1), while a single MPC already needs 12 parameters (such seemingly large numbers of parameters are necessary for a time-variant description of clusters and propagation paths).

Failure to fully embrace the issues surrounding versioning of reference sequences can lead to inconsistency of variant descriptions from one generation of patients to the next.

Sequence variant descriptions follow recommendations of the Human Genome Variation Society [den Dunnen and Antonarakis, 2000].

Information obtained from the variant description combined with knowledge of current therapies enabled assignment of a clinical classification to each somatic variant in a given cancer type.

Variant description is shown at the level of gene, transcript, and protein, indicating the affected region and whether the variation is experimentally observed in at least one report or predicted based on indirect evidence, for example, a predicted protein variation based on a transcript sequence and codon translation table.

Irrespective of this, the morphological descriptions of variants among species in the literature conform to the general formalism of EQ syntax and semantics.

Textboxes 1 and 2 include descriptions of variants in the genes involved in OI that are likely to be pathogenic or that should be considered as unclassified variants.

Mutalyzer is a tool primarily designed to check descriptions of sequence variants according to the standard human sequence variant nomenclature of HGVS.

In the MedSeq Project, we have published descriptions of the variant classification strategy we have used, and an early imagining of what that format might look like.