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More than ∼90% of CeD-associated single nucleotide polymorphisms (SNPs) localize to the non-coding genome, which we need to better understand to translate genetic knowledge into clinical practice.
We've written a case report with Dr. Zaki about this first case and we're working on the annotation of the full genome, which we'll write up as a paper as well.
Long ROH are a neglected feature of our genome, which we have shown here to be universally common in human populations and to correlate well with demographic history.
Next we randomly generate a genome sequence which has the same length and nucleotide content as the original human genome, which we denote by human-ran.
By contrast to the echinoderm genome, which has a single DIA1L gene, three full-length DIA1L paralogues were identified in the B. floridae genome, which we have called DIA1La, DIA1Lb, and DIA1Lc (Table S8).
In contrast, there is a single Fabp locus (CG6783) in the Drosophila genome, which we have termed dFabp, that encodes at least 3 alternatively spliced isoforms of Drosophila Fabp (dFabp) (Fig. 1C).
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Analyzing pan-genomics data with binomial mixture models is a way to handle dependencies between genomes, which we find is always present.
To estimate the error rate in the Neandertal DNA sequences determined, we compared reads that map to the mitochondrial genomes, which we assembled to 35-, 29- and 72-fold coverage for each of the bones, respectively (15, 45) (SOM Text 4).
An additional DIA1 family member was found in echinoderm and cephalochordate genomes, which we name DIA1L (DIA1-Like).
We used this pipeline to identify and classify HCO and NOR repertoires in 552 completely sequenced prokaryote genomes, which we also make available as a publicly accessible database.
A second PPBP gene can be found in vertebrate genomes, which we designate PPBP2.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com