Sentences with phrase «regulatory variants»

These include both common and rare regulatory variants as well as certain types of coding variants.

On the identification of potential regulatory variants within genome wide association candidate SNP sets.

The mid-term goal is to combine whole genome sequencing and expression data in cancer samples to predict cis - regulatory variants dysregulating microRNA transcription and contributing to carcinogenesis.

After my previous post highlighting their marker paper on genome content and function, I came across two companion papers that demonstrate the power of ENCODE data to characterize functional regulatory variants in the human genome.

The second study, undertaken by Marc A. Schaub and colleagues, took a complementary approach to characterize regulatory variants.

Their evidence also shows that Europeans «borrowed» some key regulatory variants from Neanderthals, which in particular affect the way their immune systems respond to viral challenges.

This includes work to discover causal regulatory variants and demonstrate their activity by genome editing assays, and in - depth characterization of the effects and modifiers of specific variants of particular interest.

First, Dr. Shendure described some interesting experiments under way in his lab to elucidate the function of non-coding regulatory variants — specifically, single nucleotide changes in the core promoter that alter gene transcription.

326/9: 55 Adipose - and maternal - specific regulatory variants at KLF14 influence Type 2 Diabetes risk in women via a female - specific effect on adipocyte physiology and body composition.

Mapping regulatory variants for the serotonin transporter gene based on allelic expression imbalance

We plan to develop new methods and tools for (1) improving the prediction of TFBSs; (2) predicting TF gene targets; (3) prioritizing cis - regulatory variants dysregulating microRNA transcriptional regulation with downstream impact on the gene regulatory programs in cancer.

And let's face it, exome sequencing lets us conveniently avoid some of the most challenging aspects of human genomics, like detecting complex rearrangements (SVs) and interpreting noncoding regulatory variants.

Of 17 regulatory variants identified in the two genes with regulatory variant burden, we show that at least six alter transcription factor - DNA binding in human neuroblastoma cells.

In addition, we analysed sequence data from sixty individuals representing six closely related species from Lake Victoria, and show genome - wide diversifying selection on coding and regulatory variants, some of which were recruited from ancient polymorphisms.

Better understanding of these factors is a major area of interest in the lab, with some of the specific projects including tissue - specificity of cis - regulatory variants in the GTEx data set, immune response eQTLs where genetic variants contribute to inter-individual response to immunological stimuli, and haplotypic epistasis between regulatory and coding variants.

These findings support the central conclusion of this paper: regulatory variants are pervasive in the human genome, far more numerous but less deleterious (on average) than coding variants.

Now, evidence suggests that regulatory variants, too, were acted upon by selection and thus contribute to the phenotype.

While useful methods exist for the prediction of functional variants within protein encoding exons (covering only 2 % of the human genome), the prediction of cis - regulatory variants (CRVs) remains an ongoing challenge.

- regulatory variants dysregulating microRNA transcriptional regulation with downstream impact on the gene regulatory programs in cancer.

- regulatory variants dysregulating microRNA transcription and contributing to carcinogenesis.

For all three regulatory variants, the investigators knew where to look because the patient's phenotype strongly pointed to a known gene.

In cancer, some regulatory variants have already been identified.