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A fraction of variant sites was found as homoplasmic in any samples and heteroplasmic in others.
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However, this only occurs for a fraction of variants.
As a control, a fraction of variants were sequenced using the ABI Prism BigDye Terminators and the ABI Prism 3100 sequencer (Applied Biosystems).
A fraction of variants of unclassified significance (VUS) can be determined deleterious, if they lie within ESE motifs and can, therefore, explain the genetic factor in families with family history [ 35– 35].
Apart from indicating the reliability of a prediction, this confidence measure can be used to rank predictions and to further enhance predictive accuracy via cautious classification, i.e. by restricting predictions to high confidence instances, we achieve greater accuracy, but at the expense of only making predictions on a fraction of variants.
It is likely that a fraction of these variants may result from the same mutation but on a different α-globin gene.
It has to be underlined that a fraction of mitochondrial variants (6.47%) annotated in the low coverage report was not identified by our protocol.
This may be an overestimate given that a fraction of the variants private to a single normal sample are likely to be real, owing to occasional loss of heterozygosity in the matched tumor.
It is likely that a fraction of these variants, with phenotypes differing from one observation to another, may be due to the same mutation but on a different α-globin gene.
However, only a fraction of all genetic variants are examined in GWAS.
From looking at specific examples it appears that only a small fraction of variants get an incorrect annotation from both software tools.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com