Sentences with phrase «functional variants»

«We would anticipate that over time, a large number of functional variants [of HTR2B] will be identified, with a range of behavioural effects,» says David Goldman at the US National Institute on Alcohol Abuse and Alcoholism in Bethesda, Maryland, and head of the team that carried out the work.

9:00 - 9:15 am: Distribution and clinical impact of functional variants in 50,726 whole exome sequences from the DiscovEHR study

Association analyses of common functional variants of the serotonin transporter gene (SLC6A4), a long - standing OCD candidate, have so far been inconsistent.

Identification of Functional Variants for Cleft Lip with or without Cleft Palate in or near PAX7, FGFR2, and NOG by Targeted Sequencing of GWAS Loci The American Journal of Human Genetics DOI: 10.1016 / j.ajhg.2015.01.004

Here, the authors have done the difficult and time - consuming work of (1) exhaustive sequencing to identify the possible functional variants, and (2) in vivo functional assays to prove that the implicated variants have a phenotypic effect.

This project indicated that not only a vast number of novel potentially functional variants in a total of 231 pharmacogenes was identified but also demonstrated the value of whole - genome sequencing for pharmacogenomic testing by capturing over 18,000 variants per individual in these pharmacogenes.

In fact, the most informative markers are likely to have high minor allele frequencies, which likely makes them neutral with respect to selection, and therefore not functional variants.

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.

73/4: 00 Fine - mapping and molecular assays identify multiple functional variants at the ANGPTL8 HDL - C GWAS locus.

Making its United States debut, the all - new 2009 Elantra Touring is a sportier, more functional variant of Hyundai's popular Elantra sedan, and is slated to hit dealerships in the winter of 2008.

The present study investigated the involvement of multiple common, non-coding functional variants of SLC6A4 in OCD.

The highly polymorphic DRD4 gene has a number of frequent functional variants in the populations [88].

Support for the association between the rare functional variant I425V of the serotonin transporter gene and susceptibility to obsessive compulsive disorder

To identify common functional variants, the authors used an allelic transmission disequilibrium test (TDT), which determines if an allele is transmitted more (or less) than we'd expect by chance.

An abundance of rare functional variants in 202 drug target genes sequenced in 14,002 people.

Michael Brudno's main research interest is the development of computational methods for the analysis of genomic datasets, especially High Throughput Sequencing data, including methods for the discovery of structural and copy - number polymorphisms and other genomic variation, identification of functional variants, and visualization of genomic data.

So far, Capra's team has found three functional variants, which are associated with addiction to nicotine, a wider waistline, and skin pigmentation.

A conditional analysis revealed only one locus (ARHGAP29) with evidence for secondary independent signals, suggesting more than one common functional variant.

The limited genetic diversity of dog breeds facilitates identification of genes, functional variants and regulatory pathways underlying complex psychiatric disorders that are mechanistically similar in dogs and humans.

Pooled in vivo screen and gene expression profiling identified functional variants and demonstrated that expression of rare variants induced tumorigenesis.

Intriguingly, the single - base deletion mutants consistently showed the greatest reduction of transcription, suggesting, perhaps, that indels in promoter regions are likely to be functional variants.

All in all, «Doze» sounds like a more polished and functional variant of «Project Volta», even though they operate in completely different ways.

Functional variants of the MAOA - uVNTR, 5 - HTTLPR, and BDNF Val66Met, either alone or in interaction with each other, may be best conceptualized as modifying sensitivity to environmental factors that confer either risk or protection for teenage delinquency.