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We have used our Lebanese cohort to perform a replication study of nine previously identified CAD/MI susceptibility loci (LTA, CDKN2A-CDKN2B, CXCL12-PSRC1-SORT1, CXCL12, MTHFD1L, WDR12, PCSK9, SH2B3, and SLC22A3), and 88 genes in related phenotypes.
To perform a replication study of the initial findings, the LD pattern of the 10 SNPs, which showed significance in the Discovery sample, was investigated in the SNAP Proxy database (http://www.broadinstitute.org/mpg/snap/ldsearch.php).org/mpg/snap/ldsearch.php
Given the current need to diminish healthcare expenditures in the Netherlands and based on the positive results from the review of Herman et al 10 and our own study, 11 we decided to perform a replication study comparing the healthcare costs of patients from CON GPs and CAM GPs with a larger data set from a Dutch health insurer, to analyse the robustness of the results of the first study.
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We performed a replication study of R386H in independent autism and control cohorts, which failed to replicate our initial findings (4/529 autism versus 9/570 control; Fishers exact two tailed p = 0.42).
We have performed a replication study based on the recent findings of the first published GWAS on CH.
We selected the top three associations from Bacchelli et al.; rs1006417, an intergenic variant on chromosome 14q21; rs12668955 in adenylate cyclase activating polypeptide 1 receptor type 1 (andYAP1R1) and one rare mutation, rs147564881, in the membrane metallo-endopeptidase gene (MME), and performed a replication study on a well characterized and large Swedish CH case-control population.
However, it remained necessary to confirm and refine our data by performing a replication study in independent case and control samples.
We performed a replication study in 4470 Chinese participants.
We performed a replication study of these four QTL in 1,459 Southern Chinese from 306 pedigrees.
We performed a replication study of the TMEM106B genome-wide association in FTLD-TDP.
To validate our results, we performed a replication study in additional 200 cases with similar clinical characteristics and results again confirmed consistent findings (p value=0.020; OR=5.20).
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