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Genetic discovery and translational decision support from exome sequencing of 20,791 type 2 diabetes cases and 24,440 controls from five ancestries
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What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1001/jama.2014.6511openalex-snapshot
Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population
inferredcites →https://doi.org/10.1002/gepi.20240openalex-snapshot
Optimal designs for two‐stage genome‐wide association studies
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Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases
inferredcites →https://doi.org/10.1002/gepi.21742openalex-snapshot
Recommended Joint and Meta‐Analysis Strategies for Case‐Control Association Testing of Single Low‐Count Variants
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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
inferredcites →https://doi.org/10.1007/978-1-4614-1412-4_14openalex-snapshot
Some Principles of the Theory of Testing Hypotheses
inferredcites →https://doi.org/10.1007/s00125-014-3405-7openalex-snapshot
SLC30A8 mutations in type 2 diabetes
inferredcites →https://doi.org/10.1007/s10557-015-6571-zopenalex-snapshot
ATM Protein Kinase Signaling, Type 2 Diabetes and Cardiovascular Disease
inferredcites →https://doi.org/10.1007/s11892-017-0907-yopenalex-snapshot
Prioritising Causal Genes at Type 2 Diabetes Risk Loci
inferredcites →https://doi.org/10.1016/j.ajhg.2011.01.019openalex-snapshot
GATES: A Rapid and Powerful Gene-Based Association Test Using Extended Simes Procedure
inferredcites →https://doi.org/10.1016/j.ajhg.2011.05.029openalex-snapshot
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.007openalex-snapshot
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
inferredcites →https://doi.org/10.1016/j.ajhg.2013.11.005openalex-snapshot
Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes
inferredcites →https://doi.org/10.1016/j.ajhg.2014.03.004openalex-snapshot
Joint Analysis of Functional Genomic Data and Genome-wide Association Studies of 18 Human Traits
inferredcites →https://doi.org/10.1016/j.ajhg.2014.10.004openalex-snapshot
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
inferredcites →https://doi.org/10.1016/j.ajhg.2016.02.012openalex-snapshot
Control for Population Structure and Relatedness for Binary Traits in Genetic Association Studies via Logistic Mixed Models
inferredcites →https://doi.org/10.1016/j.ajhg.2017.06.005openalex-snapshot
10 Years of GWAS Discovery: Biology, Function, and Translation
inferredcites →https://doi.org/10.1016/j.ajhg.2017.07.014openalex-snapshot
Variant Interpretation: Functional Assays to the Rescue
inferredcites →https://doi.org/10.1016/j.cell.2010.03.032openalex-snapshot
Genetic Heterogeneity in Human Disease
inferredcites →https://doi.org/10.1016/j.cell.2017.05.038openalex-snapshot
An Expanded View of Complex Traits: From Polygenic to Omnigenic
inferredcites →https://doi.org/10.1016/j.cell.2017.06.011openalex-snapshot
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms
inferredcites →https://doi.org/10.1016/j.celrep.2015.01.027openalex-snapshot
ATM Regulates Adipocyte Differentiation and Contributes to Glucose Homeostasis
inferredcites →https://doi.org/10.1016/j.cmet.2016.08.018openalex-snapshot
RNA Sequencing of Single Human Islet Cells Reveals Type 2 Diabetes Genes
inferredcites →https://doi.org/10.1016/j.gene.2014.04.040openalex-snapshot
ABCC8 genetic variants and risk of diabetes mellitus
inferredcites →https://doi.org/10.1016/j.hrthm.2010.11.003openalex-snapshot
Lack of replication in polymorphisms reported to be associated with atrial fibrillation
inferredcites →https://doi.org/10.1016/j.peptides.2004.11.042openalex-snapshot
Obesity-associated mutations in the melanocortin 4 receptor provide novel insights into its function
inferredcites →https://doi.org/10.1016/j.tem.2014.03.008openalex-snapshot
Zinc transporter 8 (ZnT8) and β cell function
inferredcites →https://doi.org/10.1038/79216openalex-snapshot
The common PPARγ Pro12Ala polymorphism is associated with decreased risk of type 2 diabetes
inferredcites →https://doi.org/10.1038/nature05616openalex-snapshot
A genome-wide association study identifies novel risk loci for type 2 diabetes
inferredcites →https://doi.org/10.1038/nature07485openalex-snapshot
DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome
inferredcites →https://doi.org/10.1038/nature08748openalex-snapshot
Rfx6 directs islet formation and insulin production in mice and humans
inferredcites →https://doi.org/10.1038/nature09266openalex-snapshot
From noncoding variant to phenotype via SORT1 at the 1p13 cholesterol locus
inferredcites →https://doi.org/10.1038/nature11690openalex-snapshot
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
inferredcites →https://doi.org/10.1038/nature12828openalex-snapshot
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico
inferredcites →https://doi.org/10.1038/nature12975openalex-snapshot
A polygenic burden of rare disruptive mutations in schizophrenia
inferredcites →https://doi.org/10.1038/nature13917openalex-snapshot
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
inferredcites →https://doi.org/10.1038/nature15393openalex-snapshot
A global reference for human genetic variation
inferredcites →https://doi.org/10.1038/nature18642openalex-snapshot
The genetic architecture of type 2 diabetes
inferredcites →https://doi.org/10.1038/ncomms6897openalex-snapshot
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility
inferredcites →https://doi.org/10.1038/ng.156openalex-snapshot
Common genetic variation near MC4R is associated with waist circumference and insulin resistance
inferredcites →https://doi.org/10.1038/ng.2236openalex-snapshot
The role of ATM in response to metformin treatment and activation of AMPK
inferredcites →https://doi.org/10.1038/ng.2383openalex-snapshot
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes
inferredcites →https://doi.org/10.1038/ng.2435openalex-snapshot
Bayesian refinement of association signals for 14 loci in 3 common diseases
inferredcites →https://doi.org/10.1038/ng.2804openalex-snapshot
Evaluating empirical bounds on complex disease genetic architecture
inferredcites →https://doi.org/10.1038/ng.2882openalex-snapshot
Identification of low-frequency and rare sequence variants associated with elevated or reduced risk of type 2 diabetes
inferredcites →https://doi.org/10.1038/ng.2897openalex-snapshot
Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility
inferredcites →https://doi.org/10.1038/ng.2915openalex-snapshot
Loss-of-function mutations in SLC30A8 protect against type 2 diabetes
inferredcites →https://doi.org/10.1038/ng.3404openalex-snapshot
Partitioning heritability by functional annotation using genome-wide association summary statistics
inferredcites →https://doi.org/10.1038/ng.3437openalex-snapshot
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci
inferredcites →https://doi.org/10.1038/ng.3507openalex-snapshot
Weighting sequence variants based on their annotation increases power of whole-genome association studies
inferredcites →https://doi.org/10.1038/ng.3643openalex-snapshot
A reference panel of 64,976 haplotypes for genotype imputation
inferredcites →https://doi.org/10.1038/ng.3656openalex-snapshot
Next-generation genotype imputation service and methods
inferredcites →https://doi.org/10.1038/ng.3703openalex-snapshot
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
inferredcites →https://doi.org/10.1038/ng.3761openalex-snapshot
Exploring the genetic architecture of inflammatory bowel disease by whole-genome sequencing identifies association at ADCY7
inferredcites →https://doi.org/10.1038/ng.3968openalex-snapshot
Analysis commons, a team approach to discovery in a big-data environment for genetic epidemiology
inferredcites →https://doi.org/10.1038/ng.548openalex-snapshot
Variance component model to account for sample structure in genome-wide association studies
inferredcites →https://doi.org/10.1038/ng.735openalex-snapshot
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes
inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot
A framework for variation discovery and genotyping using next-generation DNA sequencing data
inferredcites →https://doi.org/10.1038/ng.f.136openalex-snapshot
Common and rare variants in multifactorial susceptibility to common diseases
inferredcites →https://doi.org/10.1038/ng1509openalex-snapshot
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
inferredcites →https://doi.org/10.1038/ng1847openalex-snapshot
Principal components analysis corrects for stratification in genome-wide association studies
inferredcites →https://doi.org/10.1038/nm.2224openalex-snapshot
The benefits and limitations of animal models for translational research in neurodegenerative diseases
inferredcites →https://doi.org/10.1038/nmeth.1556openalex-snapshot
RNAi screening for fat regulatory genes with SRS microscopy
inferredcites →https://doi.org/10.1038/nrd.2017.217openalex-snapshot
A dynamic map for learning, communicating, navigating and improving therapeutic development
inferredcites →https://doi.org/10.1038/nrd4051openalex-snapshot
Validating therapeutic targets through human genetics
inferredcites →https://doi.org/10.1038/nrg.2016.56openalex-snapshot
Type 2 diabetes: genetic data sharing to advance complex disease research
inferredcites →https://doi.org/10.1038/nrg.2017.101openalex-snapshot
Genetic architecture: the shape of the genetic contribution to human traits and disease
inferredcites →https://doi.org/10.1038/nrg2615openalex-snapshot
Bayesian statistical methods for genetic association studies
inferredcites →https://doi.org/10.1038/nrg2779openalex-snapshot
Uncovering the roles of rare variants in common disease through whole-genome sequencing
inferredcites →https://doi.org/10.1038/s41588-018-0084-1openalex-snapshot
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
inferredcites →https://doi.org/10.1056/nejmoa022050openalex-snapshot
Clinical Spectrum of Obesity and Mutations in the Melanocortin 4 Receptor Gene
inferredcites →https://doi.org/10.1056/nejmoa1502214openalex-snapshot
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans
inferredcites →https://doi.org/10.1073/pnas.0812824106openalex-snapshot
Power of deep, all-exon resequencing for discovery of human trait genes
inferredcites →https://doi.org/10.1073/pnas.0906182107openalex-snapshot
Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies
inferredcites →https://doi.org/10.1073/pnas.1222878110openalex-snapshot
Genomic responses in mouse models poorly mimic human inflammatory diseases
inferredcites →https://doi.org/10.1073/pnas.1322563111openalex-snapshot
Searching for missing heritability: Designing rare variant association studies
inferredcites →https://doi.org/10.1073/pnas.1705859115openalex-snapshot
Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees
inferredcites →https://doi.org/10.1086/519024openalex-snapshot
A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
inferredcites →https://doi.org/10.1086/519795openalex-snapshot
PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses
inferredcites →https://doi.org/10.1086/522036openalex-snapshot
So Many Correlated Tests, So Little Time! Rapid Adjustment of P Values for Multiple Correlated Tests
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btq340openalex-snapshot
METAL: fast and efficient meta-analysis of genomewide association scans
inferredcites →https://doi.org/10.1093/jnci/djh075openalex-snapshot
Assessing the Probability That a Positive Report is False: An Approach for Molecular Epidemiology Studies
inferredcites →https://doi.org/10.1093/nar/gkt1229openalex-snapshot
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
inferredcites →https://doi.org/10.1093/nar/gkw1040openalex-snapshot
Mouse Genome Database (MGD)-2017: community knowledge resource for the laboratory mouse
inferredcites →https://doi.org/10.1093/nar/gkx1031openalex-snapshot
Consensus coding sequence (CCDS) database: a standardized set of human and mouse protein-coding regions supported by expert curation
inferredcites →https://doi.org/10.1093/nar/gkx1037openalex-snapshot
DrugBank 5.0: a major update to the DrugBank database for 2018
inferredcites →https://doi.org/10.1097/00125817-200203000-00002openalex-snapshot
A comprehensive review of genetic association studies
inferredcites →https://doi.org/10.1101/045260openalex-snapshot
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
inferredcites →https://doi.org/10.1101/108134openalex-snapshot
Integrative cross tissue analysis of gene expression identifies novel type 2 diabetes genes
inferredcites →https://doi.org/10.1101/158642openalex-snapshot
Type 2 Diabetes Risk Alleles Reveal a Role for Peptidylglycine Alpha-amidating Monooxygenase in Beta Cell Function
inferredcites →https://doi.org/10.1101/245506openalex-snapshot
Fine-mapping of an expanded set of type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
inferredcites →https://doi.org/10.1126/science.1156409openalex-snapshot
Genetic Mapping in Human Disease
inferredcites →https://doi.org/10.1126/science.1222794openalex-snapshot
Systematic Localization of Common Disease-Associated Variation in Regulatory DNA
inferredcites →https://doi.org/10.1126/science.1261877openalex-snapshot
Effect of predicted protein-truncating genetic variants on the human transcriptome
inferredcites →https://doi.org/10.1126/science.aaf6814openalex-snapshot
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
inferredcites →https://doi.org/10.1161/circgenetics.108.829747openalex-snapshot
Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium
inferredcites →https://doi.org/10.1161/circgenetics.115.001215openalex-snapshot
Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk
inferredcites →https://doi.org/10.1186/gb-2011-12-1-r1openalex-snapshot
A scalable, fully automated process for construction of sequence-ready human exome targeted capture libraries
inferredcites →https://doi.org/10.1186/s13059-016-0974-4openalex-snapshot
The Ensembl Variant Effect Predictor
inferredcites →https://doi.org/10.1210/en.2008-0721openalex-snapshot
Functional Characterization and Structural Modeling of Obesity Associated Mutations in the Melanocortin 4 Receptor
inferredcites →https://doi.org/10.1210/jc.2004-0497openalex-snapshot
Prevalence of Mutations and Functional Analyses of Melanocortin 4 Receptor Variants Identified among 750 Men with Juvenile-Onset Obesity
inferredcites →https://doi.org/10.1214/aoms/1177729884openalex-snapshot
Some Principles of the Theory of Testing Hypotheses
inferredcites →https://doi.org/10.1214/ss/1009213286openalex-snapshot
Interval Estimation for a Binomial Proportion
inferredcites →https://doi.org/10.1371/journal.pbio.1000294openalex-snapshot
Rare Variants Create Synthetic Genome-Wide Associations
inferredcites →https://doi.org/10.1371/journal.pgen.1000456openalex-snapshot
Rapid and Accurate Multiple Testing Correction and Power Estimation for Millions of Correlated Markers
inferredcites →https://doi.org/10.1371/journal.pgen.1001058openalex-snapshot
Common Inherited Variation in Mitochondrial Genes Is Not Enriched for Associations with Type 2 Diabetes or Related Glycemic Traits
inferredcites →https://doi.org/10.1371/journal.pgen.1001273openalex-snapshot
Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology
inferredcites →https://doi.org/10.1371/journal.pgen.1005165openalex-snapshot
The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease
inferredcites →https://doi.org/10.2337/db09-0551openalex-snapshot
Insulin Storage and Glucose Homeostasis in Mice Null for the Granule Zinc Transporter ZnT8 and Studies of the Type 2 Diabetes–Associated Variants
inferredcites →https://doi.org/10.2337/db11-0708openalex-snapshot
Greater Impact of Melanocortin-4 Receptor Deficiency on Rates of Growth and Risk of Type 2 Diabetes During Childhood Compared With Adulthood in Pima Indians
inferredcites →https://doi.org/10.2337/db16-0361openalex-snapshot
Systematic Functional Characterization of Candidate Causal Genes for Type 2 Diabetes Risk Variants
inferredcites →https://doi.org/10.2337/db16-1253openalex-snapshot
An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1007/s11892-019-1142-5openalex-snapshot
The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes
inferred← citeshttps://doi.org/10.1159/000517462openalex-snapshot
Transporters, TBC1D4, and ARID5B Variants to Explain Glycated Hemoglobin Variability in Patients with Type 2 Diabetes
inferred← citeshttps://doi.org/10.4239/wjd.v10.i7.376openalex-snapshot
Recent advances and perspectives in next generation sequencing application to the genetic research of type 2 diabetes
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