He wanted to see humanity in its many variants and to do so in his own, almost anachronistic way — face to face, over time, away from our burgeoning apparatus of computers and algorithms.
However, someone with an unusual degree of genetic protection from cancer is unlikely to present in the same way, making it harder to identify the relevant gene variants and to extrapolate from this knowledge to find a way to help prevent cancer in others.
Functional studies are done to confirm the pathogenicity of identified variants and to investigate underlying disease mechanisms, including studies on patient fibroblasts and zebrafish.
Related to the selection of variant services, we have considered two main issues, to select diverse variants and to determine an appropriate degree and/or selection of variant services.
The recommendations contained herein are intended to assist clinical laboratories with the validation and ongoing monitoring of NGS testing for detection of somatic variants and to ensure high quality of sequencing results.
By exploiting the reported relationship between ADHD and educational attainment (EA), we aimed to improve discovery of ADHD-associated genetic variants and to investigate genetic overlap between these phenotypes.
Here we discuss the use of functional genomics approaches that integrate transcriptomic, epigenetic, and endophenotype traits with systems biology to annotate genetic variants, and to facilitate discovery of AD risk genes.
Promising process variants should be identified in an early design stage to narrow down the usually large number of variants and to shorten the effort and time for rigorous process design.
This prompted us to search for additional RPS19 transcript variants and to analyse their effect on RPS19 expression.
Thus, sustained viral sequence comparisons and phylogenetic analyses of current HPAIV H5N1 are necessary to recognize newly emerging influenza variants and to monitor the global spread of these viruses.
The aim of the present study was to systematically analyze the SLC10A2 gene for genetic variants and to investigate whether the variants are associated with the development of gallstones.
