Variant of unknown significance

Xem 1-5 trên 5 kết quả Variant of unknown significance

Opportunities and challenges of whole-genome and exome sequencing

Recent advances in the development of sequencing technologies provide researchers with unprecedented possibilities for genetic analyses. In this review, we will discuss the history of genetic studies and the progress driven by next-generation sequencing (NGS), using complex inflammatory bowel diseases as an example.

13p vinarcissa 21-03-2023 8 1 Download

The histone H3 variant H3.3 regulates gene body DNA methylation in Arabidopsis thaliana

Gene bodies of vertebrates and flowering plants are occupied by the histone variant H3.3 and DNA methylation. The origin and significance of these profiles remain largely unknown. DNA methylation and H3.3 enrichment profiles over gene bodies are correlated and both have a similar dependence on gene transcription levels.

10p vialfrednobel 29-01-2022 6 0 Download

SNP hot-spots in the clam parasite QPX

Quahog Parasite Unknown (QPX) is an opportunistic protistan pathogen of the clam Mercenaria mercenaria. Infections with QPX have caused significant economic losses in the Northeastern United States. Previous research demonstrated a geographic gradient for disease prevalence and intensity, but little information is available on the genetic diversity of the parasite throughout its distribution range. Also, QPX virulence factors are not well understood.

13p vibeauty 23-10-2021 8 1 Download
Three-dimensional spatial analysis of missense variants in RTEL1 identifies pathogenic variants in patients with Familial Interstitial Pneumonia

Next-generation sequencing of individuals with genetic diseases often detects candidate rare variants in numerous genes, but determining which are causal remains challenging. We hypothesized that the spatial distribution of missense variants in protein structures contains information about function and pathogenicity that can help prioritize variants of unknown significance (VUS) and elucidate the structural mechanisms leading to disease.

10p viconnecticut2711 28-10-2020 14 1 Download
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients

: Significant numbers of variants detected in cancer patients are often left labeled only as variants of unknown significance (VUS). In order to expand precision medicine to a wider population, we need to extend our knowledge of pathogenicity and drug response in the context of VUS’s.

12p viputrajaya2711 22-06-2020 6 1 Download