Sentence examples for variants that fall from inspiring English sources

CONCLUSION Given the novel variants identified within the 2q31, 3q25, 5p15, 8q21, 8q24, 10p12, 17q12, 17q21.31, and 19p13 regions, larger follow-up genotyping studies, using imputation where necessary, are needed for fine-mapping and confirmation of low frequency variants that fall below statistical significance.

We then used the MAQGene variant output file to find the homozygous Bristol variants that fall in the defined mapping interval (see Materials and Methods for variant filtering).

Based on these data, we propose a nomenclature for hemoglobin variants that fall into this category.

4. Exonic variants: variants that fall anywhere in exons or splicing regions, so this includes all variants in the LoF, nonsynonymous and synonymous high-level categories above.

For variants that fall within annotated gene structures, an understanding of the genetic code and splicing can be used to identify variants that change the coding sequence or disrupt the essential splice sites at either end of the intron.

We identified 64 heterozygous and compound heterozygous, with −α3.7 thalassemia cases, originating from various ethnic backgrounds (Tables  2 and 3), creating a total of 14 different Hb variants that fall into this category.

VCFtools was then used to filter out variants with fewer than 10 observations, followed by BEDtools to remove variants that fell outside of regions with corresponding assembly alignments [ 50].

The most strongly associated SNP was rs17236239 (P = 5.0 × 10-5), a variant that falls within an intronic sequence near the middle of the gene.

For comparison, we used EMSA to test 5 additional CREB1 binding locations with a heterozygous variant that fell within a CREB1 binding motif, but were not predicted as sites of allelic imbalance (P > .3).3

Tibetans have a name for this realm, or more precisely six specific variants that all fall under the term bardo.

Furthermore, there are also early-onset atypical variants of AD that fall under this highly heterogeneous group, which makes sorting out the differential diagnosis more challenging [ 26].