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By contrast, telomerase-deficient, drug-resistant melanomas acquired highly recurrent copy number gains.
Future work should refine our initial panel to include recurrent copy number aberrations and hyper-methylated promoter regions.
Lung cancer specimens display recurrent copy number aberrations in distinguished chromosomal regions as compared with normal lung cells.
To identify genetic events underlying the genesis and progression of multiple myeloma (MM), we conducted a high-resolution analysis of recurrent copy number alterations (CNAs) and expression profiles in a collection of MM cell lines and outcome-annotated clinical specimens.
I will show how structural variants can be used to discover the molecular basis for more complex neurocognitive disease based on a genomic hotspot model of rare and recurrent copy number variants (CNVs).
Here, we performed an integrated genomic and transcriptomic analysis of 41 TDRD genes in breast cancer (TCGA and METABRIC datasets) and identified associations among recurrent copy number alterations, gene expressions, clinicopathological features, and survival of patients.
However, this panel could be substantially refined in the future given the prevalence of recurrent copy number aberrations in driver genes seen in Fig. 1, and the recurrent promoter methylation in lung cancer (Belinsky 2004) which is recapitulated in ctDNA (Mishima et al. 2015; Warton et al. 2016).
Recurrent copy number alterations (CNAs) were called using the RAE method [26].
Recurrent copy changes were further evaluated with immunohistochemistry, methylation specific PCR, and quantitative real-time PCR.
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