Massively Parallel Functional Analysis of BRCA1 RING Domain Variants

276 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Using deep mutational scanning to benchmark variant effect predictors and identify disease mutations (2020, methodology): “Several groups provide both their full fitness scores and a filter for high-quality results (Starita et al , 2015; Mighell et al , 2018).”
Multiplex Assessment of Protein Variant Abundance by Massively Parallel Sequencing (2018, background): “For example, the effects of nearly all possible single amino acid variants of the RING domain of BRCA1 on E3 ligase and BARD1 binding activity were quantified in a single study 7 .”
A saturation mutagenesis approach to understanding PTEN lipid phosphatase activity and genotype-phenotypes relationships (2018, background): “These approaches leverage recent advances in DNA synthesis and sequencing technologies and have proven particularly valuable in understanding the effects of mutations in cancer-associated genes.(7,8) With these issues in mind, we have developed a saturation mutagenesis approach to comprehensively as”
Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning (2020, unknown): “We compared the performance of EVE to a number high-throughput experiments [7, 28, 29, 30, 31, 32, 33, 34, 35, 36], which”