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In the present study we could replicate the association between the variants reported in GWAS with melanoma risk.
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We observe higher similarity between the copy number variants reported when a control genome is used for normalization as opposed to the mappability criterion shown above.
Haplotype analysis was performed using Haploview 66 to determine the LD between GWAS-associated SNPs and the rare variants reported here.
The variant lies at a site on Chromosome 9 very close to one of the diabetes variants reported last week.
Also, differences in the number of isoforms and splice variants reported still exist between different mammalian species.
The KIF6 (719allelellele frequency of the KIF6 Trp719Arg variant reported in the HapMap database differs between these populations.
The association between the variant in the immune system gene and risk of the reactions was first reported several years ago.
In the case of no LD between the marker and the functional variant, it is still possible to map the variant, as previously reported by others [ 30, 31].
No deaths from the variant have been reported in Canada.
Variants previously reported as pathogenic.
The consensus set between the two methods, as reported in this work, includes 3,977,923 variants.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com