Understanding the phenotypic impact of non-coding sequence variation
نویسندگان
چکیده
منابع مشابه
Functional interpretation of non-coding sequence variation: Concepts and challenges
Understanding the functional mechanisms underlying genetic signals associated with complex traits and common diseases, such as cancer, diabetes and Alzheimer's disease, is a formidable challenge. Many genetic signals discovered through genome-wide association studies map to non-protein coding sequences, where their molecular consequences are difficult to evaluate. This article summarizes concep...
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Protein truncating variants (PTVs) are likely to modify gene function and have been linked to hundreds of Mendelian disorders. However, the impact of PTVs on complex traits has been limited by the available sample size of whole-exome sequencing studies (WES) . Here we assemble WES data from 100,304 individuals to quantify the impact of rare PTVs on 13 quantitative traits and 10 diseases. We foc...
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MOTIVATION Technological advances have enabled the identification of an increasingly large spectrum of single nucleotide variants within the human genome, many of which may be associated with monogenic disease or complex traits. Here, we propose an integrative approach, named FATHMM-MKL, to predict the functional consequences of both coding and non-coding sequence variants. Our method utilizes ...
متن کاملSupplementary: An Integrative Approach to Predicting the Functional Effects of Non-Coding and Coding Sequence Variation
A. 46-Way Sequence Conservation: variants within highly conserved regions are likely to have more impact than those within high variability regions; therefore we used two measures of evolutionary conservation, namely PhastCons (Siepel et al., 2005) and PhyloP (Pollard et al., 2010) scores, obtained from the multiple sequence alignment (at the nucleotide level) of 46 vertebrate genomes to the hu...
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this study investigated the impact of explicit instruction of morphemic analysis and synthesis on the vocabulary development of the students. the participants were 90 junior high school students divided into two experimental groups and one control group. morphological awareness techniques (analysis/synthesis) and conventional techniques were used to teach vocabulary in the experimental groups a...
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ژورنال
عنوان ژورنال: BMC Genomics
سال: 2014
ISSN: 1471-2164
DOI: 10.1186/1471-2164-15-s2-o12