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Expression of alternatively spliced mRNA variants at specific stages of development or in specific cells and tissues contributes to the functional diversity of the human genome.
Heritabilities can be calculated for particular epigenetic variants at specific epigenetic loci by treating them like phenotypes.
Some studies quantified the efficiency of cytotoxic T lymphocytes in killing infected cells based on the rate of escape of viral variants at specific epitopes.
The identification of associated variants at specific genes will be essential, together with the QTL associations detected in this study, for future marker assisted selection programs.
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Specific variants occur at specific positions, generally with only two of the possible four bases observed at these positions, for example if the wildtype is C then only G mutants will be observed but not A or T. It is therefore possible to consider building a library that contains all possible sequence variants that can be formed by combinations of previously observed variants.
These methylation-dependent sequence variants at a specific locus can subsequently be analysed by PCR amplification by using primers specific for the unmethylated or methylated sequence.
Further enrichment for high-risk variants at a specific locus is possible by focusing resequencing on cases that share one or two copies of a marker tightly linked to that locus.
To summarize, our study has shown that DNA pooling can be a very cost-effective approach for detecting rare variants, and the optimal number of individuals in a pool is robust to the MAFs of rare variants at a specific coverage depth.
However, the causal gene and variant at a specific linkage disequilibrium block is often unclear.
The influence of genetic variation on epigenetic marks has been previously demonstrated by the association of specific genetic variants at single nucleotide polymorphisms with specific DNA methylation sites [ 53]; it is therefore possible that somatic mutations or copy number variations in MZ twins may lead to epimutations in a cell- and tissue-specific manner.
In addition to the canonical histones H2A, H2B, H3 and H4 building up the octamer, there is a wide range of histone variants present in nucleosomes at specific genomic loci whose presence affects the biological function in various ways.
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