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To determine the association of identified copy number variations (CNVs) in whole genome with the risk of Avellino corneal dystrophy (ACD) in a Korean population.
Genes in the final analysis were merged with methylation data and identified copy number aberration regions according to genomic locations.
We identified copy number change of three loci at 20q11, 1p36 and 6q27 to be significantly associated with CCNE1 amplification in ovarian tumors.
A complete list of all identified copy number aberrations and the mutation status of 7 genes is given for the cell lines showing synergistic behavior in Table S1.
In addition, CMA identified copy number variations (CNVs) of uncertain significance in 262 probands; however, parental studies usually facilitated clinical interpretation.
In fact a number of them have identified copy number variations [35] and epigenetic [36] [38] differences between them; an exception to these results is a recent study by Baranzini et al [39].
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Summary of the identified copy-number variants in each of the five Bos taurus breeds.
Summary of the identified copy-number variants in the five analysed Bos taurus breeds.
Consequently, we identified copy-number variation by aligning reads to a reference genome and searching for regions with significantly greater than average coverage.
It is tempting to speculate that the identified copy-number variable genes for the Watson and Venter genomic regions could be possible de novo duplications/deletions for either individuals, or deletions/duplications for the reference assembly.
Recently, microarray-based methods have identified copy-number variants on a genome-wide scale in Drosophila melanogaster (Dopman and Hartl 2007; Emerson et al. 2008; Turner et al. 2008).
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