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The whole-genome multiple alignments produced by Mugsy were parsed to extract variants, including mutations, insertions and deletions.
OncoRep draws from several databases and employs several variant filtering and annotation steps to extract variants that are the most biologically meaningful.
The most common approach for comparing an assembly against a reference genome is to first align the assembly against the reference and then write in-house scripts to extract variants.
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We ran vcftools to extract variant sites known to be different between N2 and CB4856.
The tool also assigns dbSNP identifiers (corresponding to NCBI dbSNP Build 137) to the extracted variants.
By comparing predictions for variants for which commonly applied methods disagreed, we extracted variants that were difficult to classify.
The consensus sequences of five TCAST subfamilies were constructed based on multiple alignments of all extracted variants (available upon request).
We have not used this option, again to maximize the coverage of the extracted variants with respect to the reference set.
Following the ACMG recommendations for reporting of incidental next generation sequencing findings, we extracted variants in 56 genes from the exome sequence data of 543 subjects and determined the reportable incidental findings for each participant.
To enhance the variant information, we extracted variant, phenotype, and literature data from the downloaded flat files of UniProt.
To finalise the consensus sequence, the most common variant at each SNP was checked by mapping the Illumina HiSeq reads to the candidate repeats using bwa-mem [ 54], extracting variant frequencies from the Samtools mpileup file [ 58] using VarScan 2 [ 59].
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