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When several SNPs stood within this limit it was decided to filter out lowest frequency variants and polymorphisms showing high level of linkage disequilibrium with other selected SNPs of the same fragment.
Such similarity poses great difficulty in the classification of PGx variants and polymorphisms.
In addition, 15 different variants and polymorphisms of unknown functional significance were found.
Moreover 17 unclassified variants and polymorphisms were detected in BRCA1 gene (6 described for the first time).
Despite the incomplete DHPLC sensitivity and the noise of the variants and polymorphisms, this first step was chosen for its cost-effectiveness.
The differences between CCR2 polymorphism investigations in sarcoidosis may be explained by linkage disequilibrium between CCR2 gene variants and polymorphisms in a neighboring sarcoidosis susceptibility gene.
Similar(41)
It is, thus, reasonable to hypothesize that among the Central Asian accessions there exists genetic variation within the Ren1-locus, as sequence polymorphisms, copy number variants, and presence/absence polymorphisms, which may underlie the different levels of resistance observed.
A number of pre-treatment resistance associated amino acid variants (RAVs) and polymorphisms have been associated with reduced response to treatment.
A CD-HIT [ 77] was performed on the proteome set with 99% identity cut-off to obtain a non-redundant dataset that is devoid of splice variants, duplicates and polymorphisms.
In addition, 18 unclassified variants and silent polymorphisms were detected including a novel silent polymorphism in exon 11 of the BRCA1 gene.
Following a review of 44 published manuscripts and one unpublished report, 80 candidate gene variants and 173 polymorphisms were analyzed among 1046 cases and 2310 controls.
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