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Of these 30 pipelines, we found that Novoalign in conjunction with GATK UnifiedGenotyper exhibited the highest sensitivity while maintaining a low number of false positives for SNVs.
By comparing strand bias using different post-analysis pipelines, we found some evidence to support the hypothesis that post-analysis procedures can cause strand bias, especially for the processing pipeline that applies both local realignment and BAQ.
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With these pipelines, we find sensitivity and specificity of 99.4% and 99.7% for pooled exome sequencing.
Using our pipeline, we found 2337 and 2092 genes with SNPs between the two genotype-specific alleles in the hybrid under non- and water-stress conditions, respectively (Additional file 1: Table S1 and Additional file 2: Table S2).
Using a comparable WGS analytic pipeline, we found that greater than 90% of rare de novo SNVs were validated in a study of autism (Yuen et al. 2015); we expect this to be the minimum validation rate in this study.
Using the genePRIMP pipeline we found that most of these transcribed regions have extensive homology to un-annotated regions in other species, highlighting the importance of a new annotation.
Through this stringent pipeline, we found that orphan genes were preferentially expressed in reproductive organs and tissues compared with other organs at a 5% significance level (Table 2; Fisher's Exact Test, p < 1e-3).
Following this pipeline, we found 2,570 unique proteins in the proteome of A. thaliana and 8,041 unique proteins in O. sativa, which represent 9.7% and 13.9% of the whole proteome respectively.
In addition, using our pipeline, we find no evidence for a role of frameshift in protein domain evolution.
As a by-product of our gene annotation pipeline, we find evidence for a total of 33,601 single exon unspliced gene models.
After variant filtering using the bioinformatic pipeline described previously, we found 14 potentially damaging and rare HSPG2 variants.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com