Statistical and Computational Methods for Genetic Diseases: An Overview

Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population

(2015) Maria Donata Di Taranto et al.   MOLECULAR AND CELLULAR PROBES

The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

(2014) Anna Ruotolo et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

The Power of Meta-Analysis in Genome-Wide Association Studies

(2013) Orestis A. Panagiotou et al.   Annual Review of Genomics and Human Genetics

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to theCFTRGene

(2013) Caroline Raynal et al.   HUMAN MUTATION

Meta-analysis methods for genome-wide association studies and beyond

(2013) Evangelos Evangelou et al.   NATURE REVIEWS GENETICS

A Review for Detecting Gene-Gene Interactions Using Machine Learning Methods in Genetic Epidemiology

(2013) Ching Lee Koo et al.   Biomed Research International

Pathway hunting by random survival forests

(2012) Xi Chen et al.   BIOINFORMATICS

Genetic studies of complex human diseases: Characterizing SNP-disease associations using Bayesian networks

(2012) Bing Han et al.   BMC Systems Biology

Random forests for genomic data analysis

(2012) Xi Chen et al.   GENOMICS

Protein structure prediction from sequence variation

(2012) Debora S Marks et al.   NATURE BIOTECHNOLOGY

Bayesian inference analyses of the polygenic architecture of rheumatoid arthritis

(2012) Eli A Stahl et al.   NATURE GENETICS

Computational tools for discovery and interpretation of expression quantitative trait loci

(2012) Fred A Wright et al.   PHARMACOGENOMICS

Characterization of Coding Synonymous and Non-Synonymous Variants in ADAMTS13 Using Ex Vivo and In Silico Approaches

(2012) Nathan C. Edwards et al.   PLoS One

Guidelines for Genome-Wide Association Studies

(2012) Gregory S. Barsh et al.   PLoS Genetics

Random-Effects Model Aimed at Discovering Associations in Meta-Analysis of Genome-wide Association Studies

(2011) Buhm Han et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Qxpak.5: Old mixed model solutions for new genomics problems

(2011) Miguel Pérez-Enciso et al.   BMC BIOINFORMATICS

The meta-analysis of genome-wide association studies

(2011) J. R. Thompson et al.   BRIEFINGS IN BIOINFORMATICS

Gene set analysis of SNP data: benefits, challenges, and future directions

(2011) Brooke L Fridley et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Defining the power limits of genome-wide association scan meta-analyses

(2011) Kay Chapman et al.   GENETIC EPIDEMIOLOGY

Methods for Identifying SNP Interactions: A Review on Variations of Logic Regression, Random Forest and Bayesian Logistic Regression

(2011) C. C. M. Chen et al.   IEEE-ACM Transactions on Computational Biology and Bioinformatics

Understanding the contribution of synonymous mutations to human disease

(2011) Zuben E. Sauna et al.   NATURE REVIEWS GENETICS

Gene-Based Tests of Association

(2011) Hailiang Huang et al.   PLoS Genetics

Prioritizing GWAS Results: A Review of Statistical Methods and Recommendations for Their Application

(2010) Rita M. Cantor et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Powerful SNP-Set Analysis for Case-Control Genome-wide Association Studies

(2010) Michael C. Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

On safari to Random Jungle: a fast implementation of Random Forests for high-dimensional data

(2010) Daniel F. Schwarz et al.   BIOINFORMATICS

Identification of Type 2 Diabetes-associated combination of SNPs using Support Vector Machine

(2010) Hyo-Jeong Ban et al.   BMC GENETICS

A multilayer perceptron neural network-based approach for the identification of responsiveness to interferon therapy in multiple sclerosis patients

(2010) Giuseppe Calcagno et al.   INFORMATION SCIENCES

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Missing heritability and strategies for finding the underlying causes of complex disease

(2010) Evan E. Eichler et al.   NATURE REVIEWS GENETICS

On Combining Data From Genome-Wide Association Studies to Discover Disease-Associated SNPs

(2010) Ruth M. Pfeiffer et al.   STATISTICAL SCIENCE

Underlying Genetic Models of Inheritance in Established Type 2 Diabetes Associations

(2009) Georgia Salanti et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Discovery Properties of Genome-wide Association Signals From Cumulatively Combined Data Sets

(2009) T. V. Pereira et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Multiple testing in genome-wide association studies via hidden Markov models

(2009) Zhi Wei et al.   BIOINFORMATICS

Finding the missing heritability of complex diseases

(2009) Teri A. Manolio et al.   NATURE

Bayesian statistical methods for genetic association studies

(2009) Matthew Stephens et al.   NATURE REVIEWS GENETICS

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Meta-analysis in genome-wide association studies

(2009) Eleftheria Zeggini et al.   PHARMACOGENOMICS

Empirical vs natural weighting in random effects meta-analysis

(2009) Jonathan J. Shuster   STATISTICS IN MEDICINE

FastMap: Fast eQTL mapping in homozygous populations

(2008) Daniel M. Gatti et al.   BIOINFORMATICS

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists

(2008) Da Wei Huang et al.   NUCLEIC ACIDS RESEARCH