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Reprojections of the averaged model were used to refine alignment of all selected segment images.
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We then used the Realigner-Target-Creator and Indel-Realigner modules of the GATK version 2.1.9 to refine alignments near all indels [ 7].
We just used our pairwise potential to refine the alignment generated by local alignment potential as follows.
Delete the columns with more than 75% gaps from Ao to obtain a refined alignment A. Compute the pseudo-energy e ij for every pairing column (i, j) in A as in Equation (16).
Delete the columns with more than 75% gaps from A o to obtain a refined alignment A. Compute the pseudo-energy e ij for every pairing column (i, j ) in A as in Equation (16).
In summary, our method takes advantage of (i) second-order Gaussian derivatives detectors for localizing the markers [21], (ii) a cluster analysis to identify them throughout a series and (iii) iterative procedures to refine the alignment process.
MatchedIonsFinder was used to refine the alignment results.
The sequences were aligned on the genome using initially a blast program [ 58] to quickly identify the similarity regions and Exonerate [ 59] software to refine the alignment.
ScanIndel employs BLAT to refine the alignment of split reads, since it is known that BLAT is much better than short read aligners at mapping sequences with gaps.
Of perhaps equal importance, the algorithm can be used to refine read alignment once a read has been heuristically mapped to a particular genomic location that is expected to contain an SV.
Gblocks (Castresana 2000) was used to refine the alignment (supplementary file S2, Supplementary Material online) and a maximum-likelihood tree was calculated using 1,000 full bootstrap replicates with RAxML v7.7.6 (Stamatakis 2006) using the PROTGAMMAWAGF substitution matrix.
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