variant


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References in periodicals archive ?
Assessment of ASXL1 c.1934dupG (p.Gly646fs) variant occurrences in cases profiled on the TruSight Myeloid Sequencing Panel (TSMP; Illumina, San Diego, California).
The purpose of this study was to determine whether frequent ABCC6 variants or hotspots exist in Japanese patients with AS.
has contributed over 95,000 human genetic variants to ClinVar, a public database hosted by the National Center for Biotechnology Information (NCBI).
According to the company, the Variant Explorer is a cloud-based data integration and visualization system for improving clinical interpretation of sequenced genetic variants.
Describe your laboratory's current workflow for variant assessment.
As lab directors know all too well, most variant analysis follows the same formula: Run the genetic test, annotate results, investigate variants detected, weigh evidence, integrate and interpret data, and report final results.
Among nonpapillary urothelial carcinomas, all were high grade and variant histology was observed in all cases.
It also has the same display and storage as the base variant, along with the same NVIDIA GeForce GTX 1660 Ti GPU.
Inside, both variants receive a seven-inch touchscreen, with the 1.5 V variant getting a slightly improved version with Android Auto and Apple CarPlay compatibility.
Not finding the variant in all groups despite large numbers of participants in each group strengthens the argument that findings from one population cannot always be generalised to others.
Solid variant showed predominantly nests and sheets of tumour cells and focal areas of classical papillary carcinoma (Figure 1c).
2 RS Black Top CVT variant), carnival yellow (1.2 RS Black Top CVT and 1.2 V CVT variants), rallye red (1.2 V CVT and 1.