Sentence examples for variants not reported from inspiring English sources
Variants not reported in clinical cases were also detected.
After synonymous variants were filtered out, there were 11,428 variants (including 239 variants not reported in the dbSNP135) to be examined for candidate mutations.
Besides deleterious mutations, complete BRCA1-2 screenidentifiedfied 32 missense mutations and 16 intronic variations: 21 already described polymorphisms, 14 variants of unknown clinical significance and 13 novel variants not reported in the BIC database (Table 3).
Variants not reported in the SNP database (http://www.ensembl.org/Homo_sapiens/Gene/Sequence?g=ENSG00000001631 r=7:91828283-91875480) and with a frequency, in healthy control group, of less than 1%, were classified as "mutation".
Affected individuals (n=16) from ten of these 16 families were found to have CUL3 or KLHL3 variants not reported in the general population (Table 1 and Supplementary Figure S3 at http://www.clinsci.org/cs/126/cs1260721add.htm).htm
They reported three variants not reported by Rand et al. but did not clarify if these were found in cases or controls, nor did they report the frequency of the polymorphisms reported by Rand et al. [ 35].
However, the relatively conservative detection thresholds (a minor allele frequency of >1.5 10%) used in these studies mean that lower frequency variants were not reported, despite the fact that, from first principles, most somatic mtDNA variants will be expected to fall below this level.
These genetic variants were not reported in the public databases (1000 Genomes, dbSNPs).
These variants were not reported in 1000 genomes project database, dbSNP database, the ESP6500 dataset or ExAC database.
Thus all the variants either not reported, or present in dbSNP but with a frequency lower that 1%% or with no frequency reported were retained in the analysis.
By comparing our results with reviews (10, 24 27) of RA, we found that two loci from inter-population-reproduced variants were not reported in reviews and have been validated in recent meta-analyses (Table 1).
