Genotype imputation for genome-wide association studies.
- Authors
- Marchini, Jonathan; Howie, Bryan
- Year
- 2010
- Journal
- Nature reviews. Genetics
- PMID
- 20517342
- DOI
- 10.1038/nrg2796
In the past few years genome-wide association (GWA) studies have uncovered a large number of convincingly replicated associations for many complex human diseases. Genotype imputation has been used widely in the analysis of GWA studies to boost power, fine-map associations and facilitate the combination of results across studies using meta-analysis. This Review describes the details of several different statistical methods for imputing genotypes, illustrates and discusses the factors that influence imputation performance, and reviews methods that can be used to assess imputation performance and test association at imputed SNPs.
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| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
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| Public Access to Summary Statistics for Genome-wide Association Studies of Body Mass Index, Weight, and Height Among Healthy Japanese Individuals: The Japanese Consortium of Genetic Epidemiology Studies. | Goto A et al. | β | 2022 | β |
| Quality Control Procedures for Genome-Wide Association Studies. | Truong VQ et al. | β | 2022 | β |
| Rapid, Reference-Free human genotype imputation with denoising autoencoders. | Dias R et al. | β | 2022 | β |
| Rare and common genetic determinants of metabolic individuality and their effects on human health. | Surendran P et al. | β | 2022 | β |
| Recovering High-Quality Host Genomes from Gut Metagenomic Data through Genotype Imputation. | Marcos S et al. | β | 2022 | β |
| Riboflavin intake, <i>MTRR</i> genetic polymorphism (rs1532268) and gastric cancer risk in a Korean population: a case-control study. | Lu YT et al. | β | 2022 | β |
| Searching for robust associations with a multi-environment knockoff filter. | Li S et al. | β | 2022 | β |
| Sociotechnical safeguards for genomic data privacy. | Wan Z et al. | β | 2022 | β |
| Surfing the Big Data Wave: Omics Data Challenges in Transplantation. | Ba R et al. | β | 2022 | β |
| The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region. | Ali AT et al. | β | 2022 | β |
| Transfer learning for genotype-phenotype prediction using deep learning models. | Muneeb M et al. | β | 2022 | β |
| Using population-specific add-on polymorphisms to improve genotype imputation in underrepresented populations. | Xu ZM et al. | β | 2022 | β |
| Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. | Blume F et al. | β | 2022 | β |
| Accelerated deciphering of the genetic architecture of agricultural economic traits in pigs using a low-coverage whole-genome sequencing strategy. | Yang R et al. | β | 2021 | β |
| A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. | Yu Y et al. | β | 2021 | β |
| A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. | Hardcastle AJ et al. | β | 2021 | β |
| Analysis of genetic and clinical factors associated with buprenorphine response. | Crist RC et al. | β | 2021 | β |
| An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank. | Smith SM et al. | β | 2021 | β |
| A pooled genome-wide association study identifies pancreatic cancer susceptibility loci on chromosome 19p12 and 19p13.3 in the full-Jewish population. | Streicher SA et al. | β | 2021 | β |
| A population-specific reference panel for improved genotype imputation in African Americans. | O'Connell J et al. | β | 2021 | β |
| A Single-Step Genome Wide Association Study on Body Size Traits Using Imputation-Based Whole-Genome Sequence Data in Yorkshire Pigs. | Liu H et al. | β | 2021 | β |
| Assessing the role of cortisol in cancer: a wide-ranged Mendelian randomisation study. | Larsson SC et al. | β | 2021 | β |
| Assessment of Imputation Quality: Comparison of Phasing and Imputation Algorithms in Real Data. | Stahl K et al. | β | 2021 | β |
| Beta-lactam-induced immediate hypersensitivity reactions: AΒ genome-wide association study of a deeply phenotyped cohort. | Nicoletti P et al. | β | 2021 | β |
| Detection of quantitative trait loci from RNA-seq data with or without genotypes using BaseQTL. | Vigorito E et al. | β | 2021 | β |
| Development of high-resolution multiple-SNP arrays for genetic analyses and molecular breeding through genotyping by target sequencing and liquid chip. | Guo Z et al. | β | 2021 | β |
| Differential genetic influences over colorectal cancer risk and gene expression in large bowel mucosa. | Vaughan-Shaw PG et al. | β | 2021 | β |
| False discovery rate control in genome-wide association studies with population structure. | Sesia M et al. | β | 2021 | β |
| False positive findings during genome-wide association studies with imputation: influence of allele frequency and imputation accuracy. | Zhang Z et al. | β | 2021 | β |
| Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. | Robertson CC et al. | β | 2021 | β |
| Fine scale human genetic structure in three regions of Cameroon reveals episodic diversifying selection. | Esoh KK et al. | β | 2021 | β |
| Genetic factors underlying the bidirectional relationship between autoimmune and mental disorders - Findings from a Danish population-based study. | Liu X et al. | β | 2021 | β |
| Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency. | Batai K et al. | β | 2021 | β |
| Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci. | Harshfield EL et al. | β | 2021 | β |
| Genome-wide association studies: assessing trait characteristics in model and crop plants. | Alseekh S et al. | β | 2021 | β |
| Genome-wide association study identifies 7q11.22 and 7q36.3 associated with noise-induced hearing loss among Chinese population. | Niu Y et al. | β | 2021 | β |
| Genome-wide association study of asthma exacerbations despite inhaled corticosteroid use. | Hernandez-Pacheco N et al. | β | 2021 | β |
| Genome-Wide Association Study of Growth Performance and Immune Response to Newcastle Disease Virus of Indigenous Chicken in Rwanda. | Habimana R et al. | β | 2021 | β |
| Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. | Gharahkhani P et al. | β | 2021 | β |
| Genomic partitioning of inbreeding depression in humans. | Yengo L et al. | β | 2021 | β |
| Genomic signatures of natural selection at phenology-related genes in a widely distributed tree species Fagus sylvatica L. | Meger J et al. | β | 2021 | β |
| Genotype imputation in case-only studies of gene-environment interaction: validity and power. | AleknonytΔ-Resch M et al. | β | 2021 | β |
| Graduate Student Literature Review: Understanding the genetic mechanisms underlying mastitis. | Miles AM et al. | β | 2021 | β |
| Haplotype-aware inference of human chromosome abnormalities. | Ariad D et al. | β | 2021 | β |
| Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits. | Di Giovannantonio M et al. | β | 2021 | β |
| HICANCER: accurate and complete cancer genome phasing with Hi-C reads. | Pan W et al. | β | 2021 | β |
| Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. | OrtuΓ±o FM et al. | β | 2021 | β |
| How imputation can mitigate SNP ascertainment Bias. | Geibel J et al. | β | 2021 | β |
| Identification of 22 susceptibility loci associated with testicular germ cell tumors. | Pluta J et al. | β | 2021 | β |
| Identification of Germline Genetic Variants that Increase Prostate Cancer Risk and Influence Development of Aggressive Disease. | Saunders EJ et al. | β | 2021 | β |
| Identifying tumorigenic non-coding mutations through altered <i>cis</i>-regulation. | Cheng Z et al. | β | 2021 | β |
| Impact of pre- and post-variant filtration strategies on imputation. | Charon C et al. | β | 2021 | β |
| Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes. | JimΓ©nez-Kaufmann A et al. | β | 2021 | β |
| Integrative genomic analysis of blood pressure and related phenotypes in rats. | Takeuchi F et al. | β | 2021 | β |
| Investigating the Effect of Imputed Structural Variants from Whole-Genome Sequence on Genome-Wide Association and Genomic Prediction in Dairy Cattle. | Chen L et al. | β | 2021 | β |
| Investigative genetic genealogy: Current methods, knowledge and practice. | Kling D et al. | β | 2021 | β |
| Japonica Array NEO with increased genome-wide coverage and abundant disease risk SNPs. | Sakurai-Yageta M et al. | β | 2021 | β |
| LEA 3: Factor models in population genetics and ecological genomics with R. | Gain C et al. | β | 2021 | β |
| Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations. | Martin AR et al. | β | 2021 | β |
| Low-pass sequencing increases the power of GWAS and decreases measurement error of polygenic risk scores compared to genotyping arrays. | Li JH et al. | β | 2021 | β |
| Machine learning based disease prediction from genotype data. | Katsaouni N et al. | β | 2021 | β |
| mbImpute: an accurate and robust imputation method for microbiome data. | Jiang R et al. | β | 2021 | β |
| Mendelian randomization highlights insomnia as a risk factor for pain diagnoses. | Broberg M et al. | β | 2021 | β |
| Meta-analysis of 208370 East Asians identifies 113 susceptibility loci for systemic lupus erythematosus. | Yin X et al. | β | 2021 | β |
| Meta-analysis of genome-wide association studies reveal common loci controlling agronomic and quality traits in a wide range of normal and heat stressed environments. | Joukhadar R et al. | β | 2021 | β |
| Metabolic profiling of maternal serum of women at high-risk of spontaneous preterm birth using NMR and MGWAS approach. | Gupta JK et al. | β | 2021 | β |
| Multi-Omics Approach in the Identification of Potential Therapeutic Biomolecule for COVID-19. | Singh R et al. | β | 2021 | β |
| Nebula: ultra-efficient mapping-free structural variant genotyper. | Khorsand P et al. | β | 2021 | β |
| PIP-SNP: a pipeline for processing SNP data featured as linkage disequilibrium bin mapping, genotype imputing and marker synthesizing. | Zhang W et al. | β | 2021 | β |
| Planning and Conducting a Pharmacogenetics Association Study. | Hertz DL et al. | β | 2021 | β |
| Plant-ImputeDB: an integrated multiple plant reference panel database for genotype imputation. | Gao Y et al. | β | 2021 | β |
| Polygenic risk score for genetic evaluation of prostate cancer risk in Asian populations: A narrative review. | Song SH et al. | β | 2021 | β |
| Prostate Cancer Mortality Associated with Aggregate Polymorphisms in Androgen-Regulating Genes: The Atherosclerosis Risk in the Communities (ARIC) Study. | Prizment AE et al. | β | 2021 | β |
| RAFFI: Accurate and fast familial relationship inference in large scale biobank studies using RaPID. | Naseri A et al. | β | 2021 | β |
| Recommendations for Statistical Reporting in Cardiovascular Medicine: A Special Report From the American Heart Association. | Althouse AD et al. | β | 2021 | β |
| RefRGim: an intelligent reference panel reconstruction method for genotype imputation with convolutional neural networks. | Shi S et al. | β | 2021 | β |
| Salivary metabolites associated with a 5-year tooth loss identified in a population-based setting. | AndΓΆrfer L et al. | β | 2021 | β |
| Smoking Modifies Pancreatic Cancer Risk Loci on 2q21.3. | Mocci E et al. | β | 2021 | β |
| Soybean (Glycine max) Haplotype Map (GmHapMap): a universal resource for soybean translational and functional genomics. | Torkamaneh D et al. | β | 2021 | β |
| Sparse deep neural networks on imaging genetics for schizophrenia case-control classification. | Chen J et al. | β | 2021 | β |
| State-of-the-art genome inference in the human MHC. | Dilthey AT | β | 2021 | β |
| The need for polygenic score reporting standards in evidence-based practice: lipid genetics use case. | Wand H et al. | β | 2021 | β |
| Trans-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects. | Takei R et al. | β | 2021 | β |
| Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation. | Kim M et al. | β | 2021 | β |
| Ultra Low-Coverage Whole-Genome Sequencing as an Alternative to Genotyping Arrays in Genome-Wide Association Studies. | Chat V et al. | β | 2021 | β |
| Using game theory to thwart multistage privacy intrusions when sharing data. | Wan Z et al. | β | 2021 | β |
| Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. | Somineni HK et al. | β | 2021 | β |
| A bird's-eye view of Italian genomic variation through whole-genome sequencing. | Cocca M et al. | β | 2020 | β |
| ACE inhibition and cardiometabolic risk factors, lung <i>ACE2</i> and <i>TMPRSS2</i> gene expression, and plasma ACE2 levels: a Mendelian randomization study. | Gill D et al. | β | 2020 | β |
| A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. | Kojima K et al. | β | 2020 | β |
| Altered mechanisms of genital development identified through integration of DNA methylation and genomic measures in hypospadias. | Richard MA et al. | β | 2020 | β |
| A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. | Choquet H et al. | β | 2020 | β |
| Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. | Ali AT et al. | β | 2020 | β |
| Animal-ImputeDB: a comprehensive database with multiple animal reference panels for genotype imputation. | Yang W et al. | β | 2020 | β |
| Applications of genotyping-by-sequencing (GBS) in maize genetics and breeding. | Wang N et al. | β | 2020 | β |
| A Unifying Framework for Imputing Summary Statistics in Genome-Wide Association Studies. | Wu Y et al. | β | 2020 | β |
| CAUSALdb: a database for disease/trait causal variants identified using summary statistics of genome-wide association studies. | Wang J et al. | β | 2020 | β |
| Construction of a high-density genetic map with whole genome sequencing in Nicotiana tabacum L. | Tong Z et al. | β | 2020 | β |
| Direct-to-Consumer Nutrigenetics Testing: An Overview. | Floris M et al. | β | 2020 | β |
| Ensuring privacy and security of genomic data and functionalities. | Mohammed Yakubu A et al. | β | 2020 | β |
| eQTL Mapping Using Transcription Factor Affinity. | Mariella E et al. | β | 2020 | β |
| Evaluation of Whole-Exome Enrichment Solutions: Lessons from the High-End of the Short-Read Sequencing Scale. | DΓaz-de Usera A et al. | β | 2020 | β |
| Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription. | Marenne G et al. | β | 2020 | β |
| Fine-scale population structure in the UK Biobank: implications for genome-wide association studies. | Cook JP et al. | β | 2020 | β |
| Functional validity, role, and implications of heavy alcohol consumption genetic loci. | Thompson A et al. | β | 2020 | β |
| Genetic architecture of quantitative traits in beef cattle revealed by genome wide association studies of imputed whole genome sequence variants: I: feed efficiency and component traits. | Zhang F et al. | β | 2020 | β |
| Genetic Determinants of Lung Cancer Prognosis in Never Smokers: A Pooled Analysis in the International Lung Cancer Consortium. | Brhane Y et al. | β | 2020 | β |
| Genetic Influences on Disease Subtypes. | Dahl A et al. | β | 2020 | β |
| Genetics of rheumatic fever and rheumatic heart disease. | Muhamed B et al. | β | 2020 | β |
| Genetic variation implicates plasma angiopoietin-2 in the development of acute kidney injury sub-phenotypes. | Bhatraju PK et al. | β | 2020 | β |
| Genome-wide association analysis of pulse wave velocity traits provide new insights into the causal relationship between arterial stiffness and blood pressure. | Rode M et al. | β | 2020 | β |
| Genome-wide association study for circulating fibroblast growth factor 21 and 23. | Chuang GT et al. | β | 2020 | β |
| Genome-wide Association Study for Vitamin D Levels Reveals 69 Independent Loci. | Manousaki D et al. | β | 2020 | β |
| Genome-wide association study of cognitive performance in U.S. veterans with schizophrenia or bipolar disorder. | Harvey PD et al. | β | 2020 | β |
| Genome-Wide Association Study of Cryptosporidiosis in Infants Implicates <i>PRKCA</i>. | Wojcik GL et al. | β | 2020 | β |
| Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations. | Cismaru AL et al. | β | 2020 | β |
| Genome Wide Association Study Pinpoints Key Agronomic QTLs in African Rice Oryza glaberrima. | Cubry P et al. | β | 2020 | β |
| Genotype imputation using the Positional Burrows Wheeler Transform. | Rubinacci S et al. | β | 2020 | β |
| Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. | Sieh W et al. | β | 2020 | β |
| Identifying disease-causing mutations in genomes of single patients by computational approaches. | Sevim Bayrak C et al. | β | 2020 | β |
| Identity-by-descent detection across 487,409 British samples reveals fine scale population structure and ultra-rare variant associations. | Nait Saada J et al. | β | 2020 | β |
| Importance of Genetic Studies of Cardiometabolic Disease in Diverse Populations. | FernΓ‘ndez-Rhodes L et al. | β | 2020 | β |
| Investigating the accuracy of imputing autosomal variants in Nellore cattle using the ARS-UCD1.2 assembly of the bovine genome. | Hermisdorff IDC et al. | β | 2020 | β |
| Meta-Analysis of Genome-Wide Association and Gene Expression Studies Implicates Donor T Cell Function and Cytokine Pathways in Acute GvHD. | HyvΓ€rinen K et al. | β | 2020 | β |
| Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population. | Tangtanatakul P et al. | β | 2020 | β |
| Multi-resolution localization of causal variants across the genome. | Sesia M et al. | β | 2020 | β |
| New Insights From Imputed Whole-Genome Sequence-Based Genome-Wide Association Analysis and Transcriptome Analysis: The Genetic Mechanisms Underlying Residual Feed Intake in Chickens. | Ye S et al. | β | 2020 | β |
| Pharmacogenetics of Type 2 Diabetes-Progress and Prospects. | Nasykhova YA et al. | β | 2020 | β |
| Polygenic architecture informs potential vulnerability to drug-induced liver injury. | Koido M et al. | β | 2020 | β |
| Population genomics of Vibrionaceae isolated from an endangered oasis reveals local adaptation after an environmental perturbation. | VΓ‘zquez-Rosas-Landa M et al. | β | 2020 | β |
| Population-specific reference panels are crucial for genetic analyses: an example of the CREBRF locus in Native Hawaiians. | Lin M et al. | β | 2020 | β |
| Precise and Cost-Effective Nanopore Sequencing for Post-GWAS Fine-Mapping and Causal Variant Identification. | Magdy T et al. | β | 2020 | β |
| Ranbow: A fast and accurate method for polyploid haplotype reconstruction. | Moeinzadeh MH et al. | β | 2020 | β |
| Remote modulation of lncRNA <i>GCLET</i> by risk variant at 16p13 underlying genetic susceptibility to gastric cancer. | Du M et al. | β | 2020 | β |
| Replication of Newly Identified Genetic Associations Between Abdominal Aortic Aneurysm and SMYD2, LINC00540, PCIF1/MMP9/ZNF335, and ERG. | Tang W et al. | β | 2020 | β |
| SNP-based quantitative deconvolution of biological mixtures: application to the detection of cows with subclinical mastitis by whole-genome sequencing of tank milk. | Coppieters W et al. | β | 2020 | β |
| The single-cell eQTLGen consortium. | van der Wijst M et al. | β | 2020 | β |
| A framework for linking resting-state chronnectome/genome features in schizophrenia: A pilot study. | Rashid B et al. | β | 2019 | β |
| Age at menarche and epithelial ovarian cancer risk: A meta-analysisΒ and Mendelian randomization study. | Yang H et al. | β | 2019 | β |
| A genome wide association study identifies new genes potentially associated with eyelid sagging. | Laville V et al. | β | 2019 | β |
| A genome-wide association study implicates <i>NR2F2</i> in lymphangioleiomyomatosis pathogenesis. | Kim W et al. | β | 2019 | β |
| A genome-wide association study of mitochondrial DNA copy number in two population-based cohorts. | Guyatt AL et al. | β | 2019 | β |
| A Genome-Wide Association Study of Skin and Iris Pigmentation among Individuals of South Asian Ancestry. | Jonnalagadda M et al. | β | 2019 | β |
| A likelihood-based approach to transcriptome association analysis. | Qian J et al. | β | 2019 | β |
| A method for building a genome-connectome bipartite graph model. | Yu Q et al. | β | 2019 | β |
| An Unbiased Lipid Phenotyping Approach To Study the Genetic Determinants of Lipids and Their Association with Coronary Heart Disease Risk Factors. | Harshfield EL et al. | β | 2019 | β |
| A Single Nucleotide C3 Polymorphism Associates With Clinical Outcome After Lung Transplantation. | Kardol-Hoefnagel T et al. | β | 2019 | β |
| Benefits and limitations of genome-wide association studies. | Tam V et al. | β | 2019 | β |
| Comparison and assessment of family- and population-based genotype imputation methods in large pedigrees. | Ullah E et al. | β | 2019 | β |
| Comparison of genotype imputation strategies using a combined reference panel for chicken population. | Ye S et al. | β | 2019 | β |
| Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland. | Kurki MI et al. | β | 2019 | β |
| Current perspectives in assessing humoral immunity after measles vaccination. | Haralambieva IH et al. | β | 2019 | β |
| Dairy Product Intake and Risk of Type 2 Diabetes in EPIC-InterAct: A Mendelian Randomization Study. | Vissers LET et al. | β | 2019 | β |
| Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population. | Schurz H et al. | β | 2019 | β |
| Evaluating the quality of the 1000 genomes project data. | Belsare S et al. | β | 2019 | β |
| External Replication of Urinary Bladder Cancer Prognostic Polymorphisms in the UK Biobank. | Lipunova N et al. | β | 2019 | β |
| Fast read alignment with incorporation of known genomic variants. | Guo H et al. | β | 2019 | β |
| Finding the Optimal Imputation Strategy for Small Cattle Populations. | KorkuΔ P et al. | β | 2019 | β |
| Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. | Igo RP et al. | β | 2019 | β |
| Footprints of adaptive evolution revealed by whole Z chromosomes haplotypes in flycatchers. | Nadachowska-Brzyska K et al. | β | 2019 | β |
| Gene hunting with hidden Markov model knockoffs. | Sesia M et al. | β | 2019 | β |
| Genetic and metabolic signatures ofΒ Salmonella enterica subsp. entericaΒ associated with animal sources at the pangenomic scale. | Vila Nova M et al. | β | 2019 | β |
| Genetic architecture of human plasma lipidome and its link to cardiovascular disease. | Tabassum R et al. | β | 2019 | β |
| Genetic associations of hemoglobin in children with chronic kidney disease in the PediGFR Consortium. | Atkinson MA et al. | β | 2019 | β |
| Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic Syndrome. | Dufek S et al. | β | 2019 | β |
| Genetic influences on delayed reward discounting: A genome-wide prioritized subset approach. | MacKillop J et al. | β | 2019 | β |
| Genetic risk factors for the development of pulmonary disease identified by genome-wide association. | Hall R et al. | β | 2019 | β |
| Genetics of nurture: A test of the hypothesis that parents' genetics predict their observed caregiving. | Wertz J et al. | β | 2019 | β |
| Genetic Susceptibility to Chronic Kidney Disease - Some More Pieces for the Heritability Puzzle. | CaΓ±adas-Garre M et al. | β | 2019 | β |
| Genetic validation study of protein tyrosine phosphatase receptor type D (PTPRD) gene variants and risk for antipsychotic-induced weight gain. | Maciukiewicz M et al. | β | 2019 | β |
| Genome-wide Association Study for Tumour Stage, Grade, Size, and Age at Diagnosis of Non-muscle-invasive Bladder Cancer. | Lipunova N et al. | β | 2019 | β |
| Genome-wide association study of agronomic traits in bread wheat reveals novel putative alleles for future breeding programs. | Rahimi Y et al. | β | 2019 | β |
| Genome-wide association study of alcohol consumption and use disorder in 274,424 individuals from multiple populations. | Kranzler HR et al. | β | 2019 | β |
| Genome-wide association study of anti-MΓΌllerian hormone levels in pre-menopausal women of late reproductive age and relationship with genetic determinants of reproductive lifespan. | Ruth KS et al. | β | 2019 | β |
| Genome-wide association study of normal and atypical progesterone profiles in Holstein-Friesian dairy cows. | Nyman S et al. | β | 2019 | β |
| Genotype Imputation in Genome-Wide Association Studies. | Naj AC | β | 2019 | β |
| Germline variants and somatic mutation signatures of breast cancer across populations of African and European ancestry in the US and Nigeria. | Wang S et al. | β | 2019 | β |
| Gimpute: an efficient genetic data imputation pipeline. | Chen J et al. | β | 2019 | β |
| Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk. | Vijayakrishnan J et al. | β | 2019 | β |
| iFunMed: Integrative functional mediation analysis of GWAS and eQTL studies. | Rojo C et al. | β | 2019 | β |
| Improving Imputation Accuracy by Inferring Causal Variants in Genetic Studies. | Wu Y et al. | β | 2019 | β |
| Imputation of behavioral candidate gene repeat variants in 486,551 publicly-available UK Biobank individuals. | Border R et al. | β | 2019 | β |
| Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus. | Odhams CA et al. | β | 2019 | β |
| Leveraging Polygenic Functional Enrichment to Improve GWAS Power. | Kichaev G et al. | β | 2019 | β |
| Meta-analysis of genome-wide association studies provides insights into genetic control of tomato flavor. | Zhao J et al. | β | 2019 | β |
| Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations. | Lona-Durazo F et al. | β | 2019 | β |
| Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. | Bentley AR et al. | β | 2019 | β |
| Neuroblastoma in relation to joint effects of vitamin A and maternal and offspring variants in vitamin A-related genes: A report of the Children's Oncology Group. | Mazul AL et al. | β | 2019 | β |
| Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports <i>SH3PXD2A</i> as a Clefting Susceptibility Gene. | van Rooij IA et al. | β | 2019 | β |
| Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease. | Veluchamy A et al. | β | 2019 | β |
| Novel Genetic Locus of Visceral Fat and Systemic Inflammation. | Shin J et al. | β | 2019 | β |
| Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data. | Eller RJ et al. | β | 2019 | β |
| Operative vs Nonoperative Treatment for Atraumatic Rotator Cuff Tears: A Trial Protocol for the Arthroscopic Rotator Cuff Pragmatic Randomized Clinical Trial. | Jain NB et al. | β | 2019 | β |
| Optimizing Selection of the Reference Population for Genotype Imputation From Array to Sequence Variants. | Butty AM et al. | β | 2019 | β |
| Phenotype Prediction and Genome-Wide Association Study Using Deep Convolutional Neural Network of Soybean. | Liu Y et al. | β | 2019 | β |
| Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. | Justice AE et al. | β | 2019 | β |
| Quick assessment for systematic test statistic inflation/deflation due to null model misspecifications in genome-wide environment interaction studies. | Ueki M et al. | β | 2019 | β |
| Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools. | Sariya S et al. | β | 2019 | β |
| Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes. | Nasykhova YA et al. | β | 2019 | β |
| Sequence imputation from low density single nucleotide polymorphism panel in a black poplar breeding population. | PΓ©gard M et al. | β | 2019 | β |
| Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions. | Nicoletti P et al. | β | 2019 | β |
| Shared Genetic Risk of Schizophrenia and Gray Matter Reduction in 6p22.1. | Chen J et al. | β | 2019 | β |
| Sparse Convolutional Denoising Autoencoders for Genotype Imputation. | Chen J et al. | β | 2019 | β |
| Statistical methods for genome-wide association studies. | Wang MH et al. | β | 2019 | β |
| Statistical tests for detecting variance effects in quantitative trait studies. | Dumitrascu B et al. | β | 2019 | β |
| Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. | Tin A et al. | β | 2019 | β |
| The Association Between <i>hMLH1</i> and <i>hMSH2</i> Polymorphisms and Renal Tumors in Northeastern China. | Xing Z et al. | β | 2019 | β |
| The Challenges of Chromosome Y Analysis and the Implications for Chronic Kidney Disease. | Anderson K et al. | β | 2019 | β |
| The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits. | Moon S et al. | β | 2019 | β |
| The Mega2R package: R tools for accessing and processing genetic data in common formats | Baron RV et al. | β | 2019 | β |
| The role of genetic variation in DGKK on moderate and severe hypospadias. | Richard MA et al. | β | 2019 | β |
| The Shared Genetic Basis of Educational Attainment and Cerebral Cortical Morphology. | Ge T et al. | β | 2019 | β |
| Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant. | Deng Q et al. | β | 2019 | β |
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| The Autoimmune-Associated Single Nucleotide Polymorphism Within <i>PTPN22</i> Correlates With Clinical Outcome After Lung Transplantation. | Budding K et al. | β | 2018 | β |
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| A Fast and Accurate Algorithm to Test for Binary Phenotypes and Its Application to PheWAS. | Dey R et al. | β | 2017 | β |
| A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy. | Fava VM et al. | β | 2017 | β |
| A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model. | Nassan M et al. | β | 2017 | β |
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| Contribution of rare and low-frequency whole-genome sequence variants to complex traits variation in dairy cattle. | Zhang Q et al. | β | 2017 | β |
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| Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. | Jorgenson E et al. | β | 2017 | β |
| Genetic evidence of a causal effect of insulin resistance on branched-chain amino acid levels. | Mahendran Y et al. | β | 2017 | β |
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| Genome-wide association studies and genomic prediction of breeding values for calving performance and body conformation traits in Holstein cattle. | Abo-Ismail MK et al. | β | 2017 | β |
| Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. | Ahola-Olli AV et al. | β | 2017 | β |
| Genome-wide association study identifies variants in <i>HORMAD2</i> associated with tonsillectomy. | Feenstra B et al. | β | 2017 | β |
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| Genomewide association study of peanut allergy reproduces association with amino acid polymorphisms in HLA-DRB1. | Martino DJ et al. | β | 2017 | β |
| Genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. | Rawofi L et al. | β | 2017 | β |
| Genome-wide association study of treatment response to venlafaxine XR in generalized anxiety disorder. | Jung J et al. | β | 2017 | β |
| GWAS for male-pattern baldness identifies 71 susceptibility loci explaining 38% of the risk. | Pirastu N et al. | β | 2017 | β |
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| Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle. | Frischknecht M et al. | β | 2017 | β |
| <i>COL4A2</i> is associated with lacunar ischemic stroke and deep ICH: Meta-analyses among 21,500 cases and 40,600 controls. | RannikmΓ€e K et al. | β | 2017 | β |
| Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. | Litchfield K et al. | β | 2017 | β |
| Identification of Four Novel Loci in Asthma in European American and African American Populations. | Almoguera B et al. | β | 2017 | β |
| Identification of loci affecting teat number by genome-wide association studies on three pig populations. | Tang J et al. | β | 2017 | β |
| Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder. | Sharp SI et al. | β | 2017 | β |
| Impact of Sixteen Established Pancreatic Cancer Susceptibility Loci in American Jews. | Streicher SA et al. | β | 2017 | β |
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| Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico. | Mizuno F et al. | β | 2017 | β |
| Imputation-Based Whole-Genome Sequence Association Study Rediscovered the Missing QTL for Lumbar Number in Sutai Pigs. | Yan G et al. | β | 2017 | β |
| Imputation of missing genotypes within LD-blocks relying on the basic coalescent and beyond: consideration of population growth and structure. | Kabisch M et al. | β | 2017 | β |
| Inbred Strain Variant Database (ISVdb): A Repository for Probabilistically Informed Sequence Differences Among the Collaborative Cross Strains and Their Founders. | Oreper D et al. | β | 2017 | β |
| Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy. | Ahmad M et al. | β | 2017 | β |
| Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array. | Liu N et al. | β | 2017 | β |
| Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of ChocΓ³ and Antioquia. | Chande AT et al. | β | 2017 | β |
| Linkage disequilibrium matches forensic genetic records to disjoint genomic marker sets. | Edge MD et al. | β | 2017 | β |
| LinkImputeR: user-guided genotype calling and imputation for non-model organisms. | Money D et al. | β | 2017 | β |
| Meta-analysis of genome-wide association studies on the intolerance of angiotensin-converting enzyme inhibitors. | Mahmoudpour SH et al. | β | 2017 | β |
| Meta-analysis of genome-wide SNP- and pathway-based associations for facets of neuroticism. | Kim SE et al. | β | 2017 | β |
| Microbial genome-wide association studies: lessons from human GWAS. | Power RA et al. | β | 2017 | β |
| Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus. | Demirci FY et al. | β | 2017 | β |
| Multiple variants in 5q31.1 are associated with systemic lupus erythematosus susceptibility and subphenotypes in the Han Chinese population. | Wen LL et al. | β | 2017 | β |
| Multivariate association between single-nucleotide polymorphisms in Alzgene linkage regions and structural changes in the brain: discovery, refinement and validation. | Szefer E et al. | β | 2017 | β |
| Network-directed cis-mediator analysis of normal prostate tissue expression profiles reveals downstream regulatory associations of prostate cancer susceptibility loci. | Larson NB et al. | β | 2017 | β |
| Network inference from glycoproteomics data reveals new reactions in the IgG glycosylation pathway. | Benedetti E et al. | β | 2017 | β |
| Novel methods for genotype imputation to whole-genome sequence and a simple linear model to predict imputation accuracy. | Larmer SG et al. | β | 2017 | β |
| Pharmacogenetic meta-analysis of baseline risk factors, pharmacodynamic, efficacy and tolerability endpoints from two large global cardiovascular outcomes trials for darapladib. | Yeo A et al. | β | 2017 | β |
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| Predicting attention-deficit/hyperactivity disorder severity from psychosocial stress and stress-response genes: a random forest regression approach. | van der Meer D et al. | β | 2017 | β |
| Predicting causal variants affecting expression by using whole-genome sequencing and RNA-seq from multiple human tissues. | Brown AA et al. | β | 2017 | β |
| PROX1 gene CC genotype as a major determinant of early onset of type 2 diabetes in slavic study participants from Action in Diabetes and Vascular Disease: Preterax and Diamicron MR Controlled Evaluation study. | Hamet P et al. | β | 2017 | β |
| RAPIDSNPs: A new computational pipeline for rapidly identifying key genetic variants reveals previously unidentified SNPs that are significantly associated with individual platelet responses. | Salehe BR et al. | β | 2017 | β |
| SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes. | MΓ€gi R et al. | β | 2017 | β |
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| The Genetic Basis of Type 2 Diabetes in Hispanics and Latin Americans: Challenges and Opportunities. | Mercader JM et al. | β | 2017 | β |
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| Variants in the fetal genome near FLT1 are associated with risk of preeclampsia. | McGinnis R et al. | β | 2017 | β |
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| A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs. | Wakil SM et al. | β | 2016 | β |
| Advances in the Pharmacogenomics of Adverse Drug Reactions. | Collins SL et al. | β | 2016 | β |
| A family-based study of gene variants and maternal folate and choline in neuroblastoma: a report from the Children's Oncology Group. | Mazul AL et al. | β | 2016 | β |
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| A genome-wide association study meta-analysis of clinical fracture in 10,012 African American women. | Taylor KC et al. | β | 2016 | β |
| A high-quality human reference panel reveals the complexity and distribution of genomic structural variants. | Hehir-Kwa JY et al. | β | 2016 | β |
| A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. | Hoffmann TJ et al. | β | 2016 | β |
| A multi-factorial analysis of response to warfarin in a UK prospective cohort. | Bourgeois S et al. | β | 2016 | β |
| A multiple-phenotype imputation method for genetic studies. | Dahl A et al. | β | 2016 | β |
| Analysis of Genotyping-by-Sequencing (GBS) Data. | Kagale S et al. | β | 2016 | β |
| An Empirical Comparison of Joint and Stratified Frameworks for Studying G Γ E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. | Sung YJ et al. | β | 2016 | β |
| An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. | Wyszynski A et al. | β | 2016 | β |
| A Powerful Procedure for Pathway-Based Meta-analysis Using Summary Statistics Identifies 43 Pathways Associated with Type II Diabetes in European Populations. | Zhang H et al. | β | 2016 | β |
| Application of computational methods in genetic study of inflammatory bowel disease. | Li J et al. | β | 2016 | β |
| A reference panel of 64,976 haplotypes for genotype imputation. | McCarthy S et al. | β | 2016 | β |
| Assessing and comparison of different machine learning methods in parent-offspring trios for genotype imputation. | Mikhchi A et al. | β | 2016 | β |
| A thrifty variant in CREBRF strongly influences body mass index in Samoans. | Minster RL et al. | β | 2016 | β |
| Body mass index: Has epidemiology started to break down causal contributions to health and disease? | Corbin LJ et al. | β | 2016 | β |
| Common genetic variants associated with telomere length confer risk for neuroblastoma and other childhood cancers. | Walsh KM et al. | β | 2016 | β |
| Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. | Bronson PG et al. | β | 2016 | β |
| Determination of NAT2 acetylation status in the Greenlandic population. | Geller F et al. | β | 2016 | β |
| Diabetes Pathology and Risk of Primary Open-Angle Glaucoma: Evaluating Causal Mechanisms by Using Genetic Information. | Shen L et al. | β | 2016 | β |
| Effect modification of FADS2 polymorphisms on the association between breastfeeding and intelligence: protocol for a collaborative meta-analysis. | Hartwig FP et al. | β | 2016 | β |
| Embracing Integrative Multiomics Approaches. | Rotroff DM et al. | β | 2016 | β |
| Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set. | Kanai M et al. | β | 2016 | β |
| Evaluation of a Two-Stage Approach in Trans-Ethnic Meta-Analysis in Genome-Wide Association Studies. | Hong J et al. | β | 2016 | β |
| Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases. | Xing C et al. | β | 2016 | β |
| Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. | Wang X et al. | β | 2016 | β |
| Exome-Wide Association Analysis of Coronary Artery Disease in the Kingdom of Saudi Arabia Population. | de Kovel CG et al. | β | 2016 | β |
| Family-based approaches: design, imputation, analysis, and beyond. | Wijsman EM | β | 2016 | β |
| FAPI: Fast and accurate P-value Imputation for genome-wide association study. | Kwan JS et al. | β | 2016 | β |
| Fast and accurate long-range phasing in a UK Biobank cohort. | Loh PR et al. | β | 2016 | β |
| Genes associated with diabetes: potential for novel therapeutic targets? | Hara K et al. | β | 2016 | β |
| Genetic diversity analysis of Gossypium arboreum germplasm accessions using genotyping-by-sequencing. | Li R et al. | β | 2016 | β |
| Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium. | Wuttke M et al. | β | 2016 | β |
| Genetic Predisposition to an Impaired Metabolism of the Branched-Chain Amino Acids and Risk of Type 2 Diabetes: A Mendelian Randomisation Analysis. | Lotta LA et al. | β | 2016 | β |
| Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease. | Schott JM et al. | β | 2016 | β |
| Genetic Variation Associated with Longer Telomere Length Increases Risk of Chronic Lymphocytic Leukemia. | Ojha J et al. | β | 2016 | β |
| genipe: an automated genome-wide imputation pipeline with automatic reporting and statistical tools. | Lemieux Perreault LP et al. | β | 2016 | β |
| Genome-wide association analysis identifies novel loci for chronotype in 100,420 individuals from the UK Biobank. | Lane JM et al. | β | 2016 | β |
| Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus. | Morris DL et al. | β | 2016 | β |
| Genome-wide association of multiple complex traits in outbred mice by ultra-low-coverage sequencing. | Nicod J et al. | β | 2016 | β |
| Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels. | Zhang W et al. | β | 2016 | β |
| Genome-wide associations for birth weight and correlations with adult disease. | Horikoshi M et al. | β | 2016 | β |
| Genome-wide association studies and resting heart rate. | KilpelΓ€inen TO | β | 2016 | β |
| Genome-wide association studies in women of African ancestry identified 3q26.21 as a novel susceptibility locus for oestrogen receptor negative breast cancer. | Huo D et al. | β | 2016 | β |
| Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. | Degenhardt F et al. | β | 2016 | β |
| Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes. | Ruth KS et al. | β | 2016 | β |
| Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia. | Fingerlin TE et al. | β | 2016 | β |
| Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations. | Wu S et al. | β | 2016 | β |
| Genotype imputation in the domestic dog. | Friedenberg SG et al. | β | 2016 | β |
| Genotype Imputation with Millions of Reference Samples. | Browning BL et al. | β | 2016 | β |
| Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project. | Auer PL et al. | β | 2016 | β |
| Haplotype estimation for biobank-scale data sets. | O'Connell J et al. | β | 2016 | β |
| HLA-DRB1*16: 01-DQB1*05: 02 is a novel genetic risk factor for flupirtine-induced liver injury. | Nicoletti P et al. | β | 2016 | β |
| Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. | Demirci FY et al. | β | 2016 | β |
| Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans. | Lessard CJ et al. | β | 2016 | β |
| Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma. | Asgari MM et al. | β | 2016 | β |
| Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans. | Xavier A et al. | β | 2016 | β |
| Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). | Nelson SC et al. | β | 2016 | β |
| Improving drug safety: From adverse drug reaction knowledge discovery to clinical implementation. | Tan Y et al. | β | 2016 | β |
| Imputing rare variants in families using a two-stage approach. | Lent S et al. | β | 2016 | β |
| Incorporating Functional Genomic Information in Genetic Association Studies Using an Empirical Bayes Approach. | Spencer AV et al. | β | 2016 | β |
| Increasing Genome Sampling and Improving SNP Genotyping for Genotyping-by-Sequencing with New Combinations of Restriction Enzymes. | Fu YB et al. | β | 2016 | β |
| Information recovery from low coverage whole-genome bisulfite sequencing. | Libertini E et al. | β | 2016 | β |
| Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. | Permuth JB et al. | β | 2016 | β |
| <i>THBS2</i> Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome. | Tsai EA et al. | β | 2016 | β |
| Longitudinal relationships between glycemic status and body mass index in a multiethnic study: evidence from observational and genetic epidemiology. | Ishola AF et al. | β | 2016 | β |
| Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs. | Below JE et al. | β | 2016 | β |
| metaCCA: summary statistics-based multivariate meta-analysis of genome-wide association studies using canonical correlation analysis. | Cichonska A et al. | β | 2016 | β |
| Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry. | Corradin O et al. | β | 2016 | β |
| Multi-ethnic genome-wide association study identifies novel locus for type 2 diabetes susceptibility. | Cook JP et al. | β | 2016 | β |
| Next-generation genotype imputation service and methods. | Das S et al. | β | 2016 | β |
| No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis. | Loley C et al. | β | 2016 | β |
| Novel genetic predictors of venous thromboembolism risk in African Americans. | Hernandez W et al. | β | 2016 | β |
| Phasing for medical sequencing using rare variants and large haplotype reference panels. | Sharp K et al. | β | 2016 | β |
| PIWI-Interacting RNAs in Gliomagenesis: Evidence from Post-GWAS and Functional Analyses. | Jacobs DI et al. | β | 2016 | β |
| Polygenic risk for type 2 diabetes mellitus among individuals with psychosis and their relatives. | Padmanabhan JL et al. | β | 2016 | β |
| Polymorphism in a lincRNA Associates with a Doubled Risk of Pneumococcal Bacteremia in Kenyan Children. | Kenyan Bacteraemia Study Group et al. | β | 2016 | β |
| PWHATSHAP: efficient haplotyping for future generation sequencing. | Bracciali A et al. | β | 2016 | β |
| Resequencing of Capsicum annuum parental lines (YCM334 and Taean) for the genetic analysis of bacterial wilt resistance. | Kang YJ et al. | β | 2016 | β |
| Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index. | Reynolds RJ et al. | β | 2016 | β |
| Short communication: Imputation of markers on the bovine X chromosome. | Mao X et al. | β | 2016 | β |
| SparRec: An effective matrix completion framework of missing data imputation for GWAS. | Jiang B et al. | β | 2016 | β |
| Strong Selection at MHC in Mexicans since Admixture. | Zhou Q et al. | β | 2016 | β |
| Telomere structure and maintenance gene variants and risk of five cancer types. | Karami S et al. | β | 2016 | β |
| The microtubule-associated molecular pathways may be genetically disrupted in patients with Bipolar Disorder. Insights from the molecular cascades. | Drago A et al. | β | 2016 | β |
| Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. | Zhang M et al. | β | 2016 | β |
| TNFRSF1B Is Associated with ANCA in IBD. | Li D et al. | β | 2016 | β |
| Transethnic Genetic-Correlation Estimates from Summary Statistics. | Brown BC et al. | β | 2016 | β |
| Translating Lung Function Genome-Wide Association Study (GWAS) Findings: New Insights for Lung Biology. | Kheirallah AK et al. | β | 2016 | β |
| Two-sample Mendelian randomization: avoiding the downsides of a powerful, widely applicable but potentially fallible technique. | Hartwig FP et al. | β | 2016 | β |
| Two-stage association study to identify the genetic susceptibility of a novel common variant of rs2075290 in ZPR1 to type 2 diabetes. | Guan F et al. | β | 2016 | β |
| Walking through the statistical black boxes of plant breeding. | Xavier A et al. | β | 2016 | β |
| Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma. | Gharahkhani P et al. | β | 2015 | β |
| A guide to genome-wide association analysis and post-analytic interrogation. | Reed E et al. | β | 2015 | β |
| A Heritable Missense Polymorphism in CDKN2A Confers Strong Risk of Childhood Acute Lymphoblastic Leukemia and Is Preferentially Selected during Clonal Evolution. | Walsh KM et al. | β | 2015 | β |
| A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. | Hoffmann TJ et al. | β | 2015 | β |
| Allelic variants in durum wheat (Triticum turgidum L. var. durum) DREB genes conferring tolerance to abiotic stresses. | Mondini L et al. | β | 2015 | β |
| A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence. | Hancock DB et al. | β | 2015 | β |
| A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data. | Kim YJ et al. | β | 2015 | β |
| An ImmunoChip study of multiple sclerosis risk in African Americans. | Isobe N et al. | β | 2015 | β |
| A population study of binocular function. | Bosten JM et al. | β | 2015 | β |
| ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. | Springelkamp H et al. | β | 2015 | β |
| Big data challenges in bone research: genome-wide association studies and next-generation sequencing. | Alonso N et al. | β | 2015 | β |
| Candidate locus analysis of the TERT-CLPTM1L cancer risk region on chromosome 5p15 identifies multiple independent variants associated with endometrial cancer risk. | Carvajal-Carmona LG et al. | β | 2015 | β |
| Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf. | Kang JT et al. | β | 2015 | β |
| Common genetic variation and schizophrenia polygenic risk influence neurocognitive performance in young adulthood. | Hatzimanolis A et al. | β | 2015 | β |
| Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. | Childs EJ et al. | β | 2015 | β |
| Common variation in COL4A1/COL4A2 is associated with sporadic cerebral small vessel disease. | RannikmΓ€e K et al. | β | 2015 | β |
| Comparing variant calling algorithms for target-exon sequencing in a large sample. | Lo Y et al. | β | 2015 | β |
| Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. | O'Mara TA et al. | β | 2015 | β |
| Comprehensively evaluating cis-regulatory variation in the human prostate transcriptome by using gene-level allele-specific expression. | Larson NB et al. | β | 2015 | β |
| Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. | Li YR et al. | β | 2015 | β |
| Confronting the missing epistasis problem: on the reproducibility of gene-gene interactions. | Murk W et al. | β | 2015 | β |
| Construction of relatedness matrices using genotyping-by-sequencing data. | Dodds KG et al. | β | 2015 | β |
| Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls. | Wang Y et al. | β | 2015 | β |
| Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes. | Shen L et al. | β | 2015 | β |
| Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation. | Horikoshi M et al. | β | 2015 | β |
| Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases. | Wang S et al. | β | 2015 | β |
| Disproportionate Contributions of Select Genomic Compartments and Cell Types to Genetic Risk for Coronary Artery Disease. | Won HH et al. | β | 2015 | β |
| Dynamic Quantitative Trait Locus Analysis of Plant Phenomic Data. | Li Z et al. | β | 2015 | β |
| Enrichment pathway analysis. The inflammatory genetic background in Bipolar Disorder. | Drago A et al. | β | 2015 | β |
| Evaluation of genetic susceptibility of common variants in CACNA1D with schizophrenia in Han Chinese. | Guan F et al. | β | 2015 | β |
| Evidence for several independent genetic variants affecting lipoprotein (a) cholesterol levels. | Lu W et al. | β | 2015 | β |
| Exploring the function of genetic variants in the non-coding genomic regions: approaches for identifying human regulatory variants affecting gene expression. | Li MJ et al. | β | 2015 | β |
| Fast imputation using medium or low-coverage sequence data. | VanRaden PM et al. | β | 2015 | β |
| Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. | Glubb DM et al. | β | 2015 | β |
| First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. | Anderson D et al. | β | 2015 | β |
| Genetic architectures of seropositive and seronegative rheumatic diseases. | Kirino Y et al. | β | 2015 | β |
| Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. | Bentham J et al. | β | 2015 | β |
| Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. | Pal LR et al. | β | 2015 | β |
| Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. | Gaulton KJ et al. | β | 2015 | β |
| Genetic loci for serum magnesium among African-Americans and gene-environment interaction at MUC1 and TRPM6 in European-Americans: the Atherosclerosis Risk in Communities (ARIC) study. | Tin A et al. | β | 2015 | β |
| Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts. | Park HW et al. | β | 2015 | β |
| Genetics and brain morphology. | Strike LT et al. | β | 2015 | β |
| Genetics of smoking behaviour. | Ware JJ et al. | β | 2015 | β |
| Genetics of Venous Thrombosis: update in 2015. | Morange PE et al. | β | 2015 | β |
| Genetic variants in DNA repair genes as potential predictive markers for oxaliplatin chemotherapy in colorectal cancer. | Kap EJ et al. | β | 2015 | β |
| Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population. | Salo PP et al. | β | 2015 | β |
| Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. | Michailidou K et al. | β | 2015 | β |
| Genome-Wide Association Mapping for Leaf Tip Necrosis and Pseudo-black Chaff in Relation to Durable Rust Resistance in Wheat. | Juliana P et al. | β | 2015 | β |
| Genome-wide association studies for feed intake and efficiency in two laying periods of chickens. | Yuan J et al. | β | 2015 | β |
| Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. | Wen CC et al. | β | 2015 | β |
| Genome-wide association study identifies SNPs in the MHC class II loci that are associated with self-reported history of whooping cough. | McMahon G et al. | β | 2015 | β |
| Genome-wide association study of blood lead shows multiple associations near ALAD. | Warrington NM et al. | β | 2015 | β |
| Genome-Wide Association Study of Staphylococcus aureus Carriage in a Community-Based Sample of Mexican-Americans in Starr County, Texas. | Brown EL et al. | β | 2015 | β |
| Genome-wide association study of warfarin maintenance dose in a Brazilian sample. | Parra EJ et al. | β | 2015 | β |
| Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. | Law MH et al. | β | 2015 | β |
| Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. | Hancock DB et al. | β | 2015 | β |
| GWAS identifies two susceptibility loci for lamotrigine-induced skin rash in patients with epilepsy. | Jang HW et al. | β | 2015 | β |
| High level of inbreeding in final phase of 1000 Genomes Project. | Gazal S et al. | β | 2015 | β |
| Identification of four new susceptibility loci for testicular germ cell tumour. | Litchfield K et al. | β | 2015 | β |
| Identification of two novel mammographic density loci at 6Q25.1. | Brand JS et al. | β | 2015 | β |
| Impact of genetic similarity on imputation accuracy. | Roshyara NR et al. | β | 2015 | β |
| Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation. | Wang C et al. | β | 2015 | β |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. | Huang J et al. | β | 2015 | β |
| Improving accuracy of rare variant imputation with a two-step imputation approach. | Kreiner-MΓΈller E et al. | β | 2015 | β |
| Improving reference epigenome catalogs by computational prediction. | Ebert P et al. | β | 2015 | β |
| Imputation accuracy is robust to cattle reference genome updates. | Milanesi M et al. | β | 2015 | β |
| Imputation of genotypes in Danish purebred and two-way crossbred pigs using low-density panels. | Xiang T et al. | β | 2015 | β |
| Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. | Hoffmann TJ et al. | β | 2015 | β |
| Increased Power for Detection of Parent-of-Origin Effects via the Use of Haplotype Estimation. | Howey R et al. | β | 2015 | β |
| Integrated genomic and BMI analysis for type 2 diabetes risk assessment. | LebrΓ³n-Aldea D et al. | β | 2015 | β |
| Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. | Hu YJ et al. | β | 2015 | β |
| Interaction association analysis of imputed SNPs in case-control and follow-up studies. | Subirana I et al. | β | 2015 | β |
| Intergenerational continuity in parents' and adolescents' externalizing problems: The role of life events and their interaction with GABRA2. | Salvatore JE et al. | β | 2015 | β |
| Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics? | Black M et al. | β | 2015 | β |
| Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. | Kawai Y et al. | β | 2015 | β |
| Large-scale imputation of epigenomic datasets for systematic annotation of diverse human tissues. | Ernst J et al. | β | 2015 | β |
| LinkImpute: Fast and Accurate Genotype Imputation for Nonmodel Organisms. | Money D et al. | β | 2015 | β |
| Longer genotypically-estimated leukocyte telomere length is associated with increased adult glioma risk. | Walsh KM et al. | β | 2015 | β |
| Molgenis-impute: imputation pipeline in a box. | Kanterakis A et al. | β | 2015 | β |
| Multiple SNP Set Analysis for Genome-Wide Association Studies Through Bayesian Latent Variable Selection. | Lu ZH et al. | β | 2015 | β |
| Novel bayes factors that capture expert uncertainty in prior density specification in genetic association studies. | Spencer AV et al. | β | 2015 | β |
| One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies. | Yuan S et al. | β | 2015 | β |
| Peer Influence, Genetic Propensity, and Binge Drinking: A Natural Experiment and a Replication. | Guo G et al. | β | 2015 | β |
| Performance of genotype imputation for low frequency and rare variants from the 1000 genomes. | Zheng HF et al. | β | 2015 | β |
| Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load. | McLaren PJ et al. | β | 2015 | β |
| Population-specific genotype imputations using minimac or IMPUTE2. | van Leeuwen EM et al. | β | 2015 | β |
| Privacy in the Genomic Era. | Naveed M et al. | β | 2015 | β |
| Progress and promise in understanding the genetic basis of common diseases. | Price AL et al. | β | 2015 | β |
| Prospects and limits of marker imputation in quantitative genetic studies in European elite wheat (Triticum aestivum L.). | He S et al. | β | 2015 | β |
| PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. | Oparina NY et al. | β | 2015 | β |
| QTL mapping using high-throughput sequencing. | Jamann TM et al. | β | 2015 | β |
| Rare variant association studies: considerations, challenges and opportunities. | Auer PL et al. | β | 2015 | β |
| Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs. | Pistis G et al. | β | 2015 | β |
| References for Haplotype Imputation in the Big Data Era. | Li W et al. | β | 2015 | β |
| Statistical analysis for genome-wide association study. | Zeng P et al. | β | 2015 | β |
| Strategies for genotype imputation in composite beef cattle. | Chud TC et al. | β | 2015 | β |
| Strategies for Imputing and Analyzing Rare Variants in Association Studies. | Hoffmann TJ et al. | β | 2015 | β |
| Strategies for single nucleotide polymorphism (SNP) genotyping to enhance genotype imputation in Gyr (Bos indicus) dairy cattle: Comparison of commercially available SNP chips. | Boison SA et al. | β | 2015 | β |
| Summarizing polygenic risks for complex diseases in a clinical whole-genome report. | Kong SW et al. | β | 2015 | β |
| Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. | Curtis J et al. | β | 2015 | β |
| Systematical analyses of variants in CTCF-binding sites identified a novel lung cancer susceptibility locus among Chinese population. | Dai J et al. | β | 2015 | β |
| Systematic assessment of imputation performance using the 1000 Genomes reference panels. | Liu Q et al. | β | 2015 | β |
| Tailored selection of study individuals to be sequenced in order to improve the accuracy of genotype imputation. | Peil B et al. | β | 2015 | β |
| The genetics of human autoimmune disease: A perspective on progress in the field and future directions. | Seldin MF | β | 2015 | β |
| The genome as pharmacopeia: association of genetic dose with phenotypic response. | Wadhawan S et al. | β | 2015 | β |
| The use of genetic information in the prediction of Type 2 diabetes. | Drenos F | β | 2015 | β |
| Two molecular measures of relatedness based on haplotype sharing. | Edwards D | β | 2015 | β |
| Two-stage comprehensive evaluation of genetic susceptibility of common variants in FBXO38, AP3B2 and WHAMM to severe chronic periodontitis. | Shang D et al. | β | 2015 | β |
| Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. | Swaminathan B et al. | β | 2015 | β |
| Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid AΞ²1-42 Level. | Li QS et al. | β | 2015 | β |
| When Does Choice of Accuracy Measure Alter Imputation Accuracy Assessments? | Ramnarine S et al. | β | 2015 | β |
| Whole genome SNP genotype piecemeal imputation. | Wang Y et al. | β | 2015 | β |
| A general efficient and flexible approach for genome-wide association analyses of imputed genotypes in family-based designs. | Cobat A et al. | β | 2014 | β |
| A genome-wide association study of anorexia nervosa. | Boraska V et al. | β | 2014 | β |
| A genome-wide association study to identify genomic modulators of rate control therapy in patients with atrial fibrillation. | Kolek MJ et al. | β | 2014 | β |
| A new approach for efficient genotype imputation using information from relatives. | Sargolzaei M et al. | β | 2014 | β |
| A new genotype imputation method with tolerance to high missing rate and rare variants. | Yang Y et al. | β | 2014 | β |
| A novel MMP12 locus is associated with large artery atherosclerotic stroke using a genome-wide age-at-onset informed approach. | Traylor M et al. | β | 2014 | β |
| A quantitative trait locus on Bos taurus autosome 17 explains a large proportion of the genetic variation in de novo synthesized milk fatty acids. | Duchemin SI et al. | β | 2014 | β |
| A rare variant in APOC3 is associated with plasma triglyceride and VLDL levels in Europeans. | Timpson NJ et al. | β | 2014 | β |
| Assessing accuracy of genotype imputation in American Indians. | Malhotra A et al. | β | 2014 | β |
| Association studies with imputed variants using expectation-maximization likelihood-ratio tests. | Huang KC et al. | β | 2014 | β |
| A survey on computer aided diagnosis for ocular diseases. | Zhang Z et al. | β | 2014 | β |
| A systematic evaluation of short tandem repeats in lipid candidate genes: riding on the SNP-wave. | Lamina C et al. | β | 2014 | β |
| Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. | Giambartolomei C et al. | β | 2014 | β |
| Characterization of a panel of Vietnamese rice varieties using DArT and SNP markers for association mapping purposes. | Phung NT et al. | β | 2014 | β |
| Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects. | Nievergelt CM et al. | β | 2014 | β |
| Common variants associated with general and MMR vaccine-related febrile seizures. | Feenstra B et al. | β | 2014 | β |
| Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma. | Gharahkhani P et al. | β | 2014 | β |
| Comprehensive pathway-based analysis identifies associations of BCL2, GNAO1 and CHD2 with non-obstructive azoospermia risk. | Qin Y et al. | β | 2014 | β |
| Construction and application of a Korean reference panel for imputing classical alleles and amino acids of human leukocyte antigen genes. | Kim K et al. | β | 2014 | β |
| Current concepts and clinical applications of stroke genetics. | Falcone GJ et al. | β | 2014 | β |
| Determining causality and consequence of expression quantitative trait loci. | Battle A et al. | β | 2014 | β |
| Determining the causes and consequences of nicotine dependence: emerging genetic research methods. | Ware JJ et al. | β | 2014 | β |
| Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. | Naj AC et al. | β | 2014 | β |
| Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. | Tantoso E et al. | β | 2014 | β |
| Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types. | Li Q et al. | β | 2014 | β |
| Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. | Pasaniuc B et al. | β | 2014 | β |
| fcGENE: a versatile tool for processing and transforming SNP datasets. | Roshyara NR et al. | β | 2014 | β |
| FISH: fast and accurate diploid genotype imputation via segmental hidden Markov model. | Zhang L et al. | β | 2014 | β |
| Flexible and scalable genotyping-by-sequencing strategies for population studies. | Heffelfinger C et al. | β | 2014 | β |
| Forecasting the burden of type 2 diabetes in Singapore using a demographic epidemiological model of Singapore. | Phan TP et al. | β | 2014 | β |
| GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies. | Sulovari A et al. | β | 2014 | β |
| Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. | Sharp SI et al. | β | 2014 | β |
| Genetic diversity analysis of highly incomplete SNP genotype data with imputations: an empirical assessment. | Fu YB | β | 2014 | β |
| Genetic studies of Crohn's disease: past, present and future. | Liu JZ et al. | β | 2014 | β |
| Genetic tools to improve reproduction traits in dairy cattle. | Capitan A et al. | β | 2014 | β |
| Genetic variation in DNA repair pathways and risk of non-Hodgkin's lymphoma. | Rendleman J et al. | β | 2014 | β |
| Genetic variation in the non-coding genome: Involvement of micro-RNAs and long non-coding RNAs in disease. | Hrdlickova B et al. | β | 2014 | β |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. | Geller F et al. | β | 2014 | β |
| Genome wide association analysis of the QTL MAS 2012 data investigating pleiotropy. | Grosse-Brinkhaus C et al. | β | 2014 | β |
| Genome-Wide Association in Tomato Reveals 44 Candidate Loci for Fruit Metabolic Traits. | Sauvage C et al. | β | 2014 | β |
| Genome-wide association studies: getting to pathogenesis, the role of inflammation/complement in age-related macular degeneration. | Cooke Bailey JN et al. | β | 2014 | β |
| Genome-wide association studies identifies seven major regions responsible for iron deficiency chlorosis in soybean (Glycine max). | Mamidi S et al. | β | 2014 | β |
| Genome-wide association studies of atopic dermatitis. | Tamari M et al. | β | 2014 | β |
| Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder. | Reutter H et al. | β | 2014 | β |
| Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort. | Saxena R et al. | β | 2014 | β |
| Genotype harmonizer: automatic strand alignment and format conversion for genotype data integration. | Deelen P et al. | β | 2014 | β |
| Genotype imputation accuracy with different reference panels in admixed populations. | Huang GH et al. | β | 2014 | β |
| GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region. | Armstrong DL et al. | β | 2014 | β |
| High density LD-based structural variations analysis in cattle genome. | Salomon-Torres R et al. | β | 2014 | β |
| Host genetic studies in adult pulmonary tuberculosis. | Meyer CG et al. | β | 2014 | β |
| Impact of pre-imputation SNP-filtering on genotype imputation results. | Roshyara NR et al. | β | 2014 | β |
| Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. | Wang Z et al. | β | 2014 | β |
| Imputation of TPMT defective alleles for the identification of patients with high-risk phenotypes. | Almoguera B et al. | β | 2014 | β |
| Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression. | Fairfax BP et al. | β | 2014 | β |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. | Delaneau O et al. | β | 2014 | β |
| Investigation of maternal genotype effects in autism by genome-wide association. | Yuan H et al. | β | 2014 | β |
| Mega2: validated data-reformatting for linkage and association analyses. | Baron RV et al. | β | 2014 | β |
| Methodology for the analysis of rare genetic variation in genome-wide association and re-sequencing studies of complex human traits. | Moutsianas L et al. | β | 2014 | β |
| MicroRNA-138 is a potential regulator of memory performance in humans. | SchrΓΆder J et al. | β | 2014 | β |
| Modulatory effects of TAOK3 variants on morphine requirement in acute postoperative pain: an early genome wide association study contribution to the field of pediatric pain. | Cook-Sather SD et al. | β | 2014 | β |
| Moving into a new era of periodontal genetic studies: relevance of large case-control samples using severe phenotypes for genome-wide association studies. | Vaithilingam RD et al. | β | 2014 | β |
| No association between CTNNBL1 and episodic memory performance. | Liu T et al. | β | 2014 | β |
| Novel genetic associations with serum level metabolites identified by phenotype set enrichment analyses. | Ried JS et al. | β | 2014 | β |
| On the performance of multiple imputation based on chained equations in tackling missing data of the African Ξ±3.7 -globin deletion in a malaria association study. | SepΓΊlveda N et al. | β | 2014 | β |
| Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. | Gusev A et al. | β | 2014 | β |
| PedBLIMP: extending linear predictors to impute genotypes in pedigrees. | Chen W et al. | β | 2014 | β |
| Population genetics of Setaria viridis, a new model system. | Huang P et al. | β | 2014 | β |
| Predicting HLA alleles from high-resolution SNP data in three Southeast Asian populations. | Pillai NE et al. | β | 2014 | β |
| Rare-variant association analysis: study designs and statistical tests. | Lee S et al. | β | 2014 | β |
| Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. | Wang Y et al. | β | 2014 | β |
| Replication of linkage at chromosome 20p13 and identification of suggestive sex-differential risk loci for autism spectrum disorder. | Werling DM et al. | β | 2014 | β |
| Routes for breaching and protecting genetic privacy. | Erlich Y et al. | β | 2014 | β |
| Sequencing pools of individuals - mining genome-wide polymorphism data without big funding. | SchlΓΆtterer C et al. | β | 2014 | β |
| T2DM GWAS in the Lebanese population confirms the role of TCF7L2 and CDKAL1 in disease susceptibility. | Ghassibe-Sabbagh M et al. | β | 2014 | β |
| TAOK3, a novel genome-wide association study locus associated with morphine requirement and postoperative pain in a retrospective pediatric day surgery population. | Cook-Sather SD et al. | β | 2014 | β |
| TASSEL-GBS: a high capacity genotyping by sequencing analysis pipeline. | Glaubitz JC et al. | β | 2014 | β |
| The impact of the human genome project on complex disease. | Bailey JN et al. | β | 2014 | β |
| The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. | Hooli BV et al. | β | 2014 | β |
| Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. | Li YR et al. | β | 2014 | β |
| Using genotyping-by-sequencing (GBS) for genomic discovery in cultivated oat. | Huang YF et al. | β | 2014 | β |
| Variant association tools for quality control and analysis of large-scale sequence and genotyping array data. | Wang GT et al. | β | 2014 | β |
| Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk. | Walsh KM et al. | β | 2014 | β |