Catalogue Search | MBRL
Are you sure you want to remove the book from the shelf?
{{itemTitle}}
265,952
result(s) for
"Quantitative"
Sort by:
Genetic studies of body mass index yield new insights for obesity biology
Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (
P
< 5 × 10
−8
), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ∼2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.
Genetic correlates of obesity
In the second of two Articles in this issue from the GIANT Consortium, Elizabeth Speliotes and collegues conducted a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), commonly used to define obesity and assess adiposity, to find 97 BMI-associated loci, of which 56 were novel. Many of these loci have significant effects on other metabolic phenotypes. The 97 loci account for about 2.7% of BMI variation, and genome-wide estimates suggest common variation accounts for more than 20% of BMI variation. Pathway analyses implicate the central nervous system in obesity susceptibility including synaptic function, glutamate signaling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.
Journal Article
Data analysis and applications. 2, Utilization of results in Europe and other topics
\"This series of books collects a diverse array of work that provides the reader with theoretical and applied information on data analysis methods, models and techniques, along with appropriate applications. Volume 2 begins with an introductory chapter by Gilbert Saporta, a leading expert in the field, who summarizes the developments in data analysis over the last 50 years. The book is then divided into four parts: Part 1 examines (in)dependence relationships, innovation in the Nordic countries, dentistry journals, dependence among growth rates of GDP of V4 countries, emissions mitigation, and five-star ratings; Part 2 investigates access to credit for SMEs, gender-based impacts given Southern Europe's economic crisis, and labor market transition probabilities; Part 3 looks at recruitment at university job-placement offices and the Program for International Student Assessment; and Part 4 examines discriminants, PageRank, and the political spectrum of Germany.\"-- Provided by publisher.
Book
Genetic impacts on DNA methylation: research findings and future perspectives
Multiple recent studies highlight that genetic variants can have strong impacts on a significant proportion of the human DNA methylome. Methylation quantitative trait loci, or meQTLs, allow for the exploration of biological mechanisms that underlie complex human phenotypes, with potential insights for human disease onset and progression. In this review, we summarize recent milestones in characterizing the human genetic basis of DNA methylation variation over the last decade, including heritability findings and genome-wide identification of meQTLs. We also discuss challenges in this field and future areas of research geared to generate insights into molecular processes underlying human complex traits.
Journal Article
Limited haplotype diversity underlies polygenic trait architecture across 70 years of wheat breeding
Background
Selection has dramatically shaped genetic and phenotypic variation in bread wheat. We can assess the genomic basis of historical phenotypic changes, and the potential for future improvement, using experimental populations that attempt to undo selection through the randomizing effects of recombination.
Results
We bred the NIAB Diverse MAGIC multi-parent population comprising over 500 recombinant inbred lines, descended from sixteen historical UK bread wheat varieties released between 1935 and 2004. We sequence the founders’ genes and promoters by capture, and the MAGIC population by low-coverage whole-genome sequencing. We impute 1.1 M high-quality SNPs that are over 99% concordant with array genotypes. Imputation accuracy only marginally improves when including the founders’ genomes as a haplotype reference panel. Despite capturing 73% of global wheat genetic polymorphism, 83% of genes cluster into no more than three haplotypes. We phenotype 47 agronomic traits over 2 years and map 136 genome-wide significant associations, concentrated at 42 genetic loci with large and often pleiotropic effects. Around half of these overlap known quantitative trait loci. Most traits exhibit extensive polygenicity, as revealed by multi-locus shrinkage modelling.
Conclusions
Our results are consistent with a gene pool of low haplotypic diversity, containing few novel loci of large effect. Most past, and projected future, phenotypic changes arising from existing variation involve fine-scale shuffling of a few haplotypes to recombine dozens of polygenic alleles of small effect. Moreover, extensive pleiotropy means selection on one trait will have unintended consequences, exemplified by the negative trade-off between yield and protein content, unless selection and recombination can break unfavorable trait-trait associations.
Journal Article
Avoiding data pitfalls : how to steer clear of common blunders when working with data and presenting analysis and visualizations
\"Avoiding Data Pitfalls is a useful resource that points out common data viz. mistakes so that users can avoid making them and notice them when they are made by others. Working with data is so common now, but the vast majority of \"data workers\" were trained in another technical field like engineering or science. Most were not explicitly taught how to successfully work with today's tools and the types of data at their disposal. This book will provide illustrative examples of common mistakes, first outlining how we often think about data and the \"data-reality gap,\" before walking the reader through each step of successful data visualization, from calculating and analyzing data to eventually presenting it in a way that is both clear and effective. The author will detail common data viz. blunders like cluttered design and ineffective use of color so that the reader can differentiate between a poor presentation and something truly representative and useful\"-- Provided by publisher.
Book
Statistical modelling of molecular descriptors in QSAR/QSPR
This handbook and ready reference presents a combination of statistical, information-theoretic, and data analysis methods to meet the challenge of designing empirical models involving molecular descriptors within bioinformatics.
eBook
Large-scale cis- and trans-eQTL analyses identify thousands of genetic loci and polygenic scores that regulate blood gene expression
Trait-associated genetic variants affect complex phenotypes primarily via regulatory mechanisms on the transcriptome. To investigate the genetics of gene expression, we performed
cis
- and
trans
-expression quantitative trait locus (eQTL) analyses using blood-derived expression from 31,684 individuals through the eQTLGen Consortium. We detected
cis
-eQTL for 88% of genes, and these were replicable in numerous tissues. Distal
trans
-eQTL (detected for 37% of 10,317 trait-associated variants tested) showed lower replication rates, partially due to low replication power and confounding by cell type composition. However, replication analyses in single-cell RNA-seq data prioritized intracellular
trans
-eQTL.
Trans
-eQTL exerted their effects via several mechanisms, primarily through regulation by transcription factors. Expression of 13% of the genes correlated with polygenic scores for 1,263 phenotypes, pinpointing potential drivers for those traits. In summary, this work represents a large eQTL resource, and its results serve as a starting point for in-depth interpretation of complex phenotypes.
Analyses of expression profiles from whole blood of 31,684 individuals identify
cis
-expression quantitative trait loci (eQTL) effects for 88% of genes and
trans
-eQTL effects for 37% of trait-associated variants.
Journal Article