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In a family, the combination of variants is probably specific to that one family, and because of this clustering of variants it will increase the chance to find it.
The study in this paper shows (1) important information about the behavior of DE in constrained search spaces and (2) the role of this knowledge in the correct combination of variants, based on their capabilities, to generate simple but competitive approaches.
For example, a larger pedigree would afford more power to identify individuals sharing not only the same rare structural variant, but in some cases, the same combination of variants involving different genes or intergenic regions.
Interpreting sequence variants often requires haplotype determination from a combination of variants detected.
Previous schizophrenia studies have shown that a combination of variants in the histamine 2 receptor gene can predict response to clozapine treatment in 76% of cases [ 88].
The traditional nomenclature of PGx alleles uses star alleles, which often represent haplotypes, or a combination of variants on the same allele.
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Therefore, a combination of variant channel conditions together with these kind of traffic patterns could cause a performance degradation since the OLLA may not be able to update its offset fast enough to follow the channel variations.
In a practical application, one will most likely rely on a combination of variant callers to avoid the biases of a single method.
In contrast, a combination of variant alleles, CCTA of the same SNPs, provided an OR of 2.54 in HAPE-p vs HAPE-c (P=0.0001), 4.12 in HAPE-p vs HLs (P<0.0001), and 0.66 in HLs vs HAPE-c (P=0.18).
How do we identify those variants, or combinations of variants (patterns), that are of importance for the phenotype, given that the functionally relevant variants represent only a subset of the naturally occurring sequence variation?
This requires the development of powerful bioinformatic approaches that allow prediction of haplotypes from numerous variants, and the classification of haplotypes into functionally related categories, in order to identify those specific sequence variants, or combinations of variants, associated with the disease phenotype.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com