Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

The sequence of the human genome

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The Structure of Haplotype Blocks in the Human Genome

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The Future of Genetic Studies of Complex Human Diseases

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Identification of the Cystic Fibrosis Gene: Genetic Analysis

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A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis

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Identification of the breast cancer susceptibility gene BRCA2

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Toward the $1000 Human Genome

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Increasing the Yield in Targeted Next-Generation Sequencing by Implicating CNV Analysis, Non-Coding Exons and the Overall Variant Load: The Example of Retinal Dystrophies

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Differential Allelic Expression in the Human Genome: A Robust Approach To Identify Genetic and Epigenetic Cis-Acting Mechanisms Regulating Gene Expression

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Whole-Genome Scan, in a Complex Disease, Using 11,245 Single-Nucleotide Polymorphisms: Comparison with Microsatellites

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Exome Sequencing: Current and Future Perspectives

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Revisiting Mendelian disorders through exome sequencing

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Natural selection on gene expression

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The Integration of Genetic Propensities into Social-Control Models of Delinquency and Violence among Male Youths

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Opportunities and challenges of whole-genome and -exome sequencing

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Lifetime Risk of Melanoma in CDKN2A Mutation Carriers in a Population-Based Sample

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Whole-Genome Sequencing of a Single Proband Together with Linkage Analysis Identifies a Mendelian Disease Gene

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Integration of text- and data-mining using ontologies successfully selects disease gene candidates

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

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Prediction and Validation of Disease Genes Using HeteSim Scores

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Linkage and Association of the Mitochondrial Aspartate/Glutamate Carrier SLC25A12 Gene With Autism

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Personalized medicine: new genomics, old lessons

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Recent Developments in Genomewide Association Scans: A Workshop Summary and Review

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Analysis of single nucleotide polymorphisms in genes in the chromosome 12Q24.31 region points to P2RX7 as a susceptibility gene to bipolar affective disorder

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Protein interactions and disease: computational approaches to uncover the etiology of diseases

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Discovering the genetics underlying foetal haemoglobin production in adults

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PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes

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The search for low-penetrance cancer susceptibility alleles

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New Insights in the Immunologic Basis of Psoriasis

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Review of Current Methods, Applications, and Data Management for the Bioinformatics Analysis of Whole Exome Sequencing

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zCall: a rare variant caller for array-based genotyping

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Common Genetic Vulnerability to Depressive Symptoms and Coronary Artery Disease: A Review and Development of Candidate Genes Related to Inflammation and Serotonin

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A Pathway-Based View of Human Diseases and Disease Relationships

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Tag SNP selection for association studies

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Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

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Genetic susceptibility to the respiratory effects of air pollution

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Gene-Disease Network Analysis Reveals Functional Modules in Mendelian, Complex and Environmental Diseases

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SNP discovery in associating genetic variation with human disease phenotypes

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Genetic Association Studies in Epilepsy: “The Truth Is Out There”

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ALOX5AP Gene and the PDE4D Gene in a Central European Population of Stroke Patients

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IL-13 R130Q, a common variant associated with allergy and asthma, enhances effector mechanisms essential for human allergic inflammation

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MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

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The use of race variables in genetic studies of complex traits and the goal of reducing health disparities: A transdisciplinary perspective.

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ALOHOMORA: a tool for linkage analysis using 10K SNP array data

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Massively parallel sequencing and rare disease

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Assessing the function of genetic variants in candidate gene association studies

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Exome sequencing: Dual role as a discovery and diagnostic tool

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Nucleotide Diversity and Linkage Disequilibrium in Cold-Hardiness- and Wood Quality-Related Candidate Genes in Douglas Fir

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Assessing genetic contributions to phenotypic differences among 'racial' and 'ethnic' groups

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Haplotype Diversity across 100 Candidate Genes for Inflammation, Lipid Metabolism, and Blood Pressure Regulation in Two Populations

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Genetic susceptibility to age-related macular degeneration: a paradigm for dissecting complex disease traits

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Pattern of Sequence Variation Across 213 Environmental Response GenesPreprint

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Copy-number changes in evolution: rates, fitness effects and adaptive significance

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Will the Genomics Revolution Revolutionize Psychiatry?

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Genetics of restless legs syndrome

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High-Throughput SNP Genotyping by Single-Tube PCR with T m -Shift Primers

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A nuclear phylogenetic analysis: SNPs, indels and SSRs deliver new insights into the relationships in the ‘true citrus fruit trees’ group (Citrinae, Rutaceae) and the origin of cultivated species

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Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia

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Eye Tracking Dysfunction in Schizophrenia: Characterization and Pathophysiology

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Association of the DTNBP1 Locus with Schizophrenia in a U.S. Population

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Identification of Four Gene Variants Associated with Myocardial Infarction

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A candidate gene approach to searching for low-penetrance breast and prostate cancer genes

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Second report on chicken genes and chromosomes 2005

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Gene Regulation in Primates Evolves under Tissue-Specific Selection Pressures

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Computational approaches to disease‐gene prediction: rationale, classification and successes

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A Compendium of Signals and Responses Triggered by Prodeath and Prosurvival Cytokines

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Tangled webs: Tracing the connections between genes and cognition

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The use of pedigree, sib-pair and association studies of common diseases for genetic mapping and epidemiology

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Pharmacogenetics for individualized cancer chemotherapy

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Sequential Elimination of Major-Effect Contributors Identifies Additional Quantitative Trait Loci Conditioning High-Temperature Growth in Yeast

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Screening the human exome: a comparison of whole genome and whole transcriptome sequencing

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The interaction of genetic and environmental factors in the etiology of hypertension

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The Genetics of Adult-Onset Neuropsychiatric Disease: Complexities and Conundra?

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Molecular Genetic Markers: Discovery, Applications, Data Storage and Visualisation

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Likelihood-Based Inference on Haplotype Effects in Genetic Association Studies

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Edgotype: a fundamental link between genotype and phenotype

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Joint mouse–human phenome-wide association to test gene function and disease risk

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Spontaneous preterm birth: advances toward the discovery of genetic predisposition

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Evaluating empirical bounds on complex disease genetic architecture

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Genome-wide association studies: progress and potential for drug discovery and development

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The genetics of human longevity

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Lessons Learned from Whole Exome Sequencing in Multiplex Families Affected by a Complex Genetic Disorder, Intracranial Aneurysm

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The emergence of whole genome association scans in barley

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Haplotype‐Association Analysis

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Genomic medicine for kidney disease

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A formal perturbation equation between genotype and phenotype determines the evolutionary action of protein-coding variations on fitness

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Polymorphisms and Circulating Levels in the Insulin-Like Growth Factor System and Risk of Breast Cancer: A Systematic Review

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Variants in the ATM-BRCA2-CHEK2 axis predispose to chronic lymphocytic leukemia

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Complex Genetic Interactions in a Quantitative Trait Locus

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Development of Strategies for SNP Detection in RNA-Seq Data: Application to Lymphoblastoid Cell Lines and Evaluation Using 1000 Genomes Data

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Genetics of common forms of obesity: a brief overview

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Quantitative Analysis of Nucleic Acids - the Last Few Years of Progress

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