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A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
TLDR
It appears that the 5′ and 3′ UTRs are reservoirs for genetic variations that changes the termini of proteins during evolution of the Drosophila genus. Expand
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
TLDR
It is demonstrated that combining SnpEff and SnpSift can expedite the identification of candidate phenotype-causative mutations in chemically mutagenized Drosophila strains and can also be used to characterize the variety of mutations generated by genotoxic chemicals. Expand
The genetic architecture of type 2 diabetes
TLDR
Large-scale sequencing does not support the idea that lower-frequency variants have a major role in predisposition to type 2 diabetes, but most fell within regions previously identified by genome-wide association studies. Expand
jFuzzyLogic: a robust and flexible Fuzzy-Logic inference system language implementation
This work introduces jFuzzyLogic, an open source library for fuzzy systems which allow us to design Fuzzy Logic Controllers supporting the standard for Fuzzy Control Programming published by theExpand
jFuzzyLogic: a Java Library to Design Fuzzy Logic Controllers According to the Standard for Fuzzy Control Programming
TLDR
An open source Java library called jFuzzyLogic is introduced which offers a fully functional and complete implementation of a fuzzy inference system according to the IEC 61131 norm, providing a programming interface and Eclipse plugin to easily write and test code for fuzzy control applications. Expand
Identification and Functional Characterization of G6PC2 Coding Variants Influencing Glycemic Traits Define an Effector Transcript at the G6PC2-ABCB11 Locus
TLDR
Exome-array data from up to 33,231 non-diabetic individuals of European ancestry was analyzed and exome-wide significant evidence was found for two loci not previously highlighted by common variant GWAS: GLP1R (p.Ala316Thr, minor allele frequency) influencing FG levels, and URB2 ( p.Glu594Val, MAF = 0.1%) influencing FI levels. Expand
Adjusted Sequence Kernel Association Test for Rare Variants Controlling for Cryptic and Family Relatedness
TLDR
This framework is an adaptation of the sequence kernel association test (SKAT) which allows us to control for family structure and shows that regardless of the level of the trait heritability, this approach has good control of type I error and good power. Expand
Lead exposure disrupts global DNA methylation in human embryonic stem cells and alters their neuronal differentiation.
TLDR
It is shown that exposure to Pb subtly alters the neuronal differentiation of exposed hESCs and that these changes could be partly mediated by modifications in the DNA methylation status of genes crucial to brain development. Expand
Intronic Non-CG DNA hydroxymethylation and alternative mRNA splicing in honey bees
TLDR
Cytosine hydroxymethylation at non-CG sites might have more functional significance than previously appreciated, and in honey bees these modifications might be related to the regulation of alternative mRNA splicing by defining the locations of the introns. Expand
Epigenetics of early-life lead exposure and effects on brain development.
TLDR
This report reviews and examines the epigenetic effects of one of the most common neurotoxic pollutants of the authors' environment, which is believed to have no safe level of exposure during human development: lead. Expand
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