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The genetic data are sequence haplotypes of the mitochondrial cytochrome b gene; phenotypic data are pelage colour variants that define sharply demarcated subspecies of this extremely variable tamarin species.
In addition, genetic variants that define New World founder haplogroups are used to estimate the amount of time required between divergence of proto-Amerinds from the Asian gene pool and expansion into the New World.
The two APOE variants that define the epsilon genotypes (rs429358 and rs7412) were genotyped on the MassARRAY with a modified protocol as previously described [43] (full protocol available from authors upon request).
SNP selection in the present study considers the full set of SNPs reported in Brandstätter et al. [6] (with the exception of SNP A14552G which is replace here by C3936T; both leading to haplogroup H12) plus a selection of additional variants that define further sub-branches of R0 within Europe; see e.g. [4].
In support of these groups representing populations that have been isolated from other populations for some time, many of the rare variants that define these groups are not present in other strains but, in at least some cases, are variable within the subgroup.
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Cancer genomes, however, pose unique challenges to variant detection from NGS data that define the effectiveness of standard methods.
Specific sequence variants that occurred 10 40 000 years ago define clades of the European mtDNA phylogeny called mtDNA haplogroups, each containing both distinct and shared genetic variants.
We define variants that change coding sequences among species as critical variants.
Since our aim was to define variants that could be genotyped by a GoldenGate assay with genomic rather that transcriptomic samples, we excluded from consideration probe sequences that spanned a putative exon-exon boundary.
We then used the MAQGene variant output file to find the homozygous Bristol variants that fall in the defined mapping interval (see Materials and Methods for variant filtering).
SMC processes and provides literature support for the variants that occur within the defined regions spanned by natural splice sites.
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