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Rescooped by Alexander Rakitko from Statistical omics and more
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A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing

A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing | Mathematics | Scoop.it
“ PLOS Computational Biology is an open-access (RT @LeucineRichBio: A Probabilistic Model to Predict Clinical Phenotypic Traits from Genome Sequencing http://t.co/1qm6f6juBj)...”
Via Mel Melendrez-Vallard, Yurii Aulchenko
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Yurii Aulchenko's curator insight, October 8, 2014 1:30 PM

To me this seems as another prove that computational prediction of pathogenicity of mutations is not even close to clinical use. We need complementary functional tests. 

Rescooped by Alexander Rakitko from Bioinformatics Software: Sequence Analysis
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A Linkage Disequilibrium–Based Approach to Selecting Disease-Associated Rare Variants

A Linkage Disequilibrium–Based Approach to Selecting Disease-Associated Rare Variants | Mathematics | Scoop.it
“ PLOS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF SCIENCE. Reports of well-performed scientific studies from all disciplines freely available to the whole world.”
Via Mel Melendrez-Vallard
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Rescooped by Alexander Rakitko from Statistical omics and more
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Defining the role of common variation in the genomic and biological architecture of adult human height : Nature Genetics : Nature Publishing Group

Defining the role of common variation in the genomic and biological architecture of adult human height : Nature Genetics : Nature Publishing Group | Mathematics | Scoop.it
“ Timothy Frayling, Joel Hirschhorn, Peter Visscher and colleagues report a meta-analysis of genome-wide association studies for adult height in 253,288 individuals. They identify 697 variants in 423 loci significantly associated with adult height and find that these variants cluster in pathways involved in growth and together explain one-fifth of the heritability for this trait.”
Via Yurii Aulchenko
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Yurii Aulchenko's curator insight, October 6, 2014 12:51 PM

This GWAS is probably biggest ever in terms of # of loci identified - almost 700! Besides, height is THE classical quantitative trait.