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In populations with a high prevalence of BRCA founder mutations, such as the Ashkenazi Jewish population and families from the Netherlands, Iceland, Poland, and Sweden, the likelihood of germline BRCA mutation are estimated around 10%.
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The rate of reversion of a mutation was estimated as the percentage of patients with a mutation reverting between 2 timepoints.
MET mutation is estimated to be present in 5 21.6% of sporadic pRCC [ 8, 108, 139, 141].
This inversion mutation was estimated to have occurred 580,000 years ago (Wallace et al. 2011).
The penetrance for gastric cancer among individuals with a CDH1 mutation is estimated to be about 40%.
Nucleotide sequence divergence levels were less than 1% and the relative rate of recombination to mutation was estimated to 1.1 for the genome overall.
The prevalence of G6PD genetic polymorphism (Viangchan mutation) was estimated to be below 1.5% in both males and females (33), with no difference between ethnic groups.
The F128A mutation was estimated to reduce the binding affinity of PR70 by fourfold, but retained 60% of the PR70 activity to enhance Cdc6 dephosphorylation.
When a patient is referred to the CGC, DNA testing will be offered when the probability of being a carrier of a BRCA1 and/or BRCA2 mutation is estimated to be over 10% by the clinical geneticist.
In order to calculate the predictive power of each subsequent biopsy, the intratumor mutation prevalence, defined as the proportion of tumor cells with a mutation, was estimated for each gene.
However, the population attributable risk of prostate cancer in US Caucasians under age 55 due to carrying one of these rare germline protein-truncating BRCA2 mutation is estimated to be <1%.
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