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When most variants have sufficient frequency to be repeatedly detected, the simple bias correction of omitting the first encounter is competitive with a balanced resequencing effort.
These risk variants are likely to show incomplete penetrance and imperfect segregation with disease as most variants have also been observed in non-autistic controls [5], [6].
Note that most variants have a low frequency (f < 0.05), which is a logical outcome of the coalescence process.
This is the case even though, on an individual basis, most variants have weak effects that were not statistically associated with type 2 diabetes in our study.
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Still, translating the resulting signals into function has been challenging because most common variants have only subtle functional consequences.
Most common variants have already been identified; the novel variants are disproportionately rare and thus more likely to be observed in only one of the studied populations.
Finally, we describe recent rare variant association findings, highlighting the unexpected conclusion that most rare variants have modest-to-small effect sizes on phenotypic variation.
14 Because most such variants have modest effects, they can only achieve genome-wide significance in well-powered GWAS with thousands of samples.
So far, most such variants have been chromosomal aberrations and copy number variants (CNVs), deletions and duplications that encompass relatively large genomic segments spanning 1 kb to several megabases in size.
Despite this progress, most psoriasis susceptibility variants have been located in intergenic or intronic regions, suggesting that such variants confer increased disease risk through their effects on gene regulation [26,28].
However, the functional properties of most of the variants have not been reported.
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CEO of Professional Science Editing for Scientists @ prosciediting.com