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For the identification of significantly mutated genes, we applied a novel analytical methodology, mutation significance with covariates (MutSigCV) [ 10], to avoid the false-positive findings detected by the standard significance analysis method (MutSig1.0) [ 55].
mutation significance copy variation.
Other new candidate driver genes altered in at least 5% of GBM cases, but not detected by a previous frequency-based mutation significance test or previous pathway analysis include: AVIL, KIT, TEK, FRS2, and KDR.
MutSigCV is the newest version of the "Mutation Significance" algorithm that uses gene specific background mutation rates including mutation events in gene covariates.
These genomes can act as controls for mutation significance in rare Mendelian disorders in which previous studies were often limited to sequencing a few hundred controls to determine if a detected variant is rare and normal or unique to a syndrome.
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DP developed the algorithm for computing the mutation frequency significance thresholds.
Data points to the left of the dotted line in Figure 2 denote introduced mutations whose significance score fell below those of the most significant false positives in the sample.
The association of anaplastic astrocytoma histology and K27M-H3.1 K27M-H3.1 approached significance (p = 0.058).
Surprisingly, two hAPL samples showed several hundreds of low-frequency mutations, whose significance remains unclear (not shown).
'...I think there should be [the same model]... I've thought about this quite a lot because with cystic fibrosis the results can be difficult to interpret and some of the mutations the significance of those isn't known.
Little is known about the incidence of kras mutations or the significance of these mutations for treatment in patients with EGCs.
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