Cargando…
A Comprehensive Evaluation of the Performance of Prediction Algorithms on Clinically Relevant Missense Variants
The rapid integration of genomic technologies in clinical diagnostics has resulted in the detection of a multitude of missense variants whose clinical significance is often unknown. As a result, a plethora of computational tools have been developed to facilitate variant interpretation. However, choo...
Autores principales: | Qorri, Erda, Takács, Bertalan, Gráf, Alexandra, Enyedi, Márton Zsolt, Pintér, Lajos, Kiss, Ernő, Haracska, Lajos |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9322961/ https://www.ncbi.nlm.nih.gov/pubmed/35887294 http://dx.doi.org/10.3390/ijms23147946 |
Ejemplares similares
-
The Combination of Single-Cell and Next-Generation Sequencing Can Reveal Mosaicism for BRCA2 Mutations and the Fine Molecular Details of Tumorigenesis
por: Gráf, Alexandra, et al.
Publicado: (2021) -
DNA-dependent protease activity of human Spartan facilitates replication of DNA–protein crosslink-containing DNA
por: Mórocz, Mónika, et al.
Publicado: (2017) -
Robust high-throughput assays to assess discrete steps in ubiquitination and related cascades
por: Fenteany, Gabriel, et al.
Publicado: (2020) -
Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples
por: Enyedi, Márton Zsolt, et al.
Publicado: (2016) -
A series of xanthenes inhibiting Rad6 function and Rad6-Rad18 interaction in the PCNA ubiquitination cascade
por: Fenteany, Gabriel, et al.
Publicado: (2022)