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The PLA2G7 V279F and the 9p21 variants were originally typed in 1130 female cases (diagnosed before age 65) and 1680 controls (clinically devoid of CAD above age 55) from Study 1.
The published menopause variants were originally identified in women excluding those with POF.
The FTO variants were originally detected in a genome wide association study (GWAS) pertaining to type 2 diabetes mellitus.
The full-length cDNA of Twinkle variants were originally cloned in the pcDNA3.1/Myc-His A (Invitrogen), as previously described (18, 35).
Therefore, one possible explanation is that functionally different IFI16 variants were originally maintained by antagonistic pleiotropy related to immune response against pathogens, with differential susceptibility to autoimmune diseases being a consequence.
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Available genome-wide assemblers able to reconstruct full-length quasi-species variants are originally designed for low throughput and are impractical for high throughput technologies containing millions of sequencing reads.
This variant was originally planned to be designated AV-8D.
This variant was originally identified in 2 German siblings with familial Parkinson's disease (18).
This variant was originally identified in a study screening Parkinson's disease patients for UCHL1 polymorphisms (20).
This variant was originally identified in rat astrocytes, but similar variants, TG2-V1 and TG2-V2, resulting from use of two alternative 5′ acceptor sites within exon 13 have subsequently been demonstrated in different human primary cells (Lai et al. 2007).
A clear challenge of using transethnic GWASs to independently replicate new associations is the limited sample sizes, particularly if the variant was originally found in a genetically isolated population.
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