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High-throughput creation and functional profiling of DNA sequence variant libraries using CRISPR-Cas9 in yeast.
Each DNA sequence variant was evaluated for pathogenicity by a search of the MITOMAP and mtDB Human Mitochondrial Genome databases [26], [27], PubMed, and compendia of mtDNA mutations including guidelines for determination of pathogenicity [28], [29].
We observed 15 haplogroups (groups of tightly linked haplotypes, with each haplogroup representing a DNA sequence variant) in KNP with gene diversity Ĥ = 0.737±0.024 (standard error) and five in HiP with Ĥ = 0.475±0.026.
We developed a standardized clinical sequencing nomenclature (CSN) for DNA sequence variant annotation.
At exon 7 of the SCN5A gene, a DNA sequence variant within the intron (pos. 38591480, C>G) was identified in 4 patients out of 6 with positive ajmaline provocation test.
Exons of the BRCA1 gene are prescreened by Denaturing Gradient Gel electrophoresis (DGGE) and electrophoretic variants are sequenced in both directions to determine the nature of the DNA sequence variant and therefore whether it is responsible for the inherited breast/ovarian cancer in that family (i.e. it is pathogenic).
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DNA sequence variants in epithelium-specific ETS-2 and ETS-3 are not associated with asthma.
DNA sequence variants of platelet-derived growth factor A-chain gene.
Goldgar DE, et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
Goldgar, D. E. et al. Integrated evaluation of DNA sequence variants of unknown clinical significance: application to BRCA1 and BRCA2.
We hypothesized that these DNA sequence variants predict adult-onset asthma only in sedentary women.
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