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Causative sequence variants are population specific.
Causative sequence variations originating from the superior parent are expected to be over-represented in the selected segregant pool.
Current approaches to map intraspecific variation to causative sequence variation use either a quantitative genetics framework (association mapping) or rely on population genetic theory (hitchhiking mapping).
The data provides strong support for the model's theoretical structure and causative sequence.
If so, CN is only a proxy for causative sequence variants.
Future studies should include a comprehensive sequencing analysis to identify the specific causative sequence variants underlying the observed associations.
Similar(42)
Good diagnostic handles, which might indicate a causative KAT6B sequence variant, include severe blepharophimosis, patellar abnormalities, thyroid abnormalities, hypothyroidism, long thumbs and toes and agenesis of the corpus callosum.
Although both SNPs are present in intron 1 and do not lead to any amino acid change, it is plausible that they may directly influence ESR1 gene expression or alternatively could be linked to some unidentified causative DNA sequence variants.
The primary method used in screening for genetic defects causative for diabetes was DNA sequencing performed using fluorescent-labelled terminating deoxynucleoside triphosphates with gene-specific oligonucleotide primers, and multiplex ligation-dependent probe amplification was used for detecting exon deletions (MRC-Holland, Amsterdam, the Netherlands).
Interestingly, the haplotype CATATAC (χ = 3.94; P = 0.047) and its 4-mer derivative CATA was also implicated, albeit less significantly so in T2DM, pointing to MI and T2DM sharing common causative genomic sequences at this locus.
This will help avoid confusing naturally occurring sequence polymorphisms with mutations that may be causative.
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