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The discordance rate was 0.19%: 16 discordant sequencing results out of the total 8,646 variant sites sequenced (262 variant sites for each of the 33 samples).
A number of genetic disorders are characterized by a ∼50% discordance rate between identical twins [1].
Two observers independently scored 65% of all genotypes with a discordance rate of less than 0.1%.
Overall, the discordance rate is only 0.20% (1 assay out of 503 where both histological and cytological results are determined).
Genotyping was considered successful if the following quality control criteria were met within each country: sample call rate ≥95%, SNP call rate ≥95%, and duplicate discordance rate ≤3%.
Moreover, the results of a survey of monozygotic twins yielded a discordance rate of 92% [7], which together with the female predominance in CHTD [8] suggest that complex non-Mendelian mechanisms underlie this condition.
Moreover, a survey of monozygotic twins yielded a discordance rate of 92%, suggesting that somatic events, genetic or epigenetic, probably play an important role in the etiology of CHTD.
They evaluated their methods with sequencing-based results from Kidd et al. However, the lowest discordance rate was 55% after excluding individual regions with a confidence score (as developed by them) below the 80th percentile.
The concordance rate was determined from individuals positive for both plus those negative for both divided by the total, and the discordance rate was the complement of the concordance rate.
This resulted in a 40% overall discordance rate for ER and PgR (P = 0.026) and an 8% discordance rate for Her2.
When looking at the overall discordance-rate measures, minimizing ADCL produced a significantly lower discordance rate over all sites compared to maximizing PD.
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