Sentences with phrase «variant association analysis»

219/2: 15 A pathway - centric approach to rare variant association analysis.

One of the hottest things right now is rare variant association analysis, enabled by cost - effective exome sequencing.

Not exact matches

Multiplex genomewide association analysis of breast milk fatty acid composition extends the phenotypic association and potential selection of FADS1 variants to arachidonic acid, a critical infant micronutrient

Meta - analyses of genome - wide association studies conducted in these ethnically - diverse populations identified a total of 878 genetic variants belonging to 18 loci associated with asthma risk.

«Gene variants modifying Huntington's symptom onset may lead to new therapeutic strategies: Genome - wide association analysis identifies sites associated with earlier - or later - than - expected symptom appearance in human patients.»

While several studies in the intervening years have investigated whether particular genes were responsible for modifying HD onset, this is the first to employ genome - wide association (GWA) analysis, which scans an individual's whole genome to identify chromosomal regions containing variants that are associated with the disease traits that are being studied.

In an analysis of postmortem human brain tissue from 137 control subjects, they also found an association between the ECR47 risk variant and reduced ADGRL3 expression in the thalamus, a key brain region for coordinating sensory processing in the brain.

Scientists for years have looked for the biological roots of the problem using tools such as genome - wide association studies and gene - linkage analysis, which crunch genetic and health data from thousands of people in an effort to pinpoint disease - causing genetic variants.

This section invites manuscripts describing (a) Linkage, association, substitution or positional mapping and epigenetic studies in any species; (b) Validation studies of candidate genes using genetically - engineered mutant model organisms; (c) Studies focused on epistatis and gene - environment interactions; (d) Analysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence vaAnalysis of the functional implications of genomic sequence variation and aim to attach physiological or pharmacogenomic relevance to alterations in genes or proteins; (e) Studies of DNA copy number variants, non-coding RNA, genome deletions, insertions, duplications and other single nucleotide polymorphisms and their relevance to physiology or pharmacology in humans or model organisms, in vitro or in vivo; and (f) Theoretical approaches to analysis of sequence vaanalysis of sequence variation.

The next concurrent platform session offers too many choices: cancer genetics, advances in association analysis, strategies for variant interpretation (where I'll spend most of my time), and more.

A combined analysis of both variants showed suggestive association with an increased risk of IBD (odds ratio 2.77, p = 0.018).

The EBV genetic variants identified here provide a basis for future more directed analysis of association of specific EBV variation with EBV biology and EBV associated diseases.IMPORTANCE Incidence of diseases associated with EBV varies greatly in different parts of the world.

Association and interaction analysis of variants in CHRNA5 / CHRNA3 / CHRNB4 gene cluster with nicotine dependence in African and European Americans