ArticleAmerican journal of human genetics2012
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 6 of them syntheses that pooled it.
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Who cites it
91 citing papers in PubMed, 6 syntheses or guidelines pooled it, 150 citations in OpenAlex.
- Association of Sickle Cell Trait With Ischemic Stroke Among African Americans: A Meta-analysis.JAMA neurology · 2018Pooled it
- Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.Nature genetics · 2016Pooled it
- Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.American journal of human genetics · 2016Pooled it
- Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.American journal of human genetics · 2016Pooled it
- Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.American journal of human genetics · 2016Pooled it
- Genome-wide association study of age at menarche in African-American women.Human molecular genetics · 2013Pooled it
- Refining rare disease variant discovery in an isolated Andean community through imputation-enhanced IBD and kinship inference from whole exome sequencing data.Human molecular genetics · 2025Article
- Erythropoietin-dependent Acquisition of CD71hiCD105hi Phenotype within CD235a- Early Erythroid Progenitors.Stem cells (Dayton, Ohio) · 2025Article
- Generating synthetic genotypes using diffusion models.Bioinformatics (Oxford, England) · 2025Article
- Germline Pathogenic DROSHA Variants Are Linked to Pineoblastoma and Wilms Tumor Predisposition.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- The genetic landscape of primary malignant melanoma of the cervix using integrated bioinformatics analysis and whole-exome sequencing.Frontiers in oncology · 2025Article
- Genetic variants associated with white blood cell count amongst individuals with sickle cell disease.British journal of haematology · 2024Article
- Tissue-aware interpretation of genetic variants advances the etiology of rare diseases.Molecular systems biology · 2024Article
- A genetic association study of circulating coagulation factor VIII and von Willebrand factor levels.Blood · 2024Article
- Reasons and Resolutions for Inconsistent Variant Interpretation.Human mutation · 2023Review
- Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly.Irish journal of medical science · 2022Article
- MagicalRsq: Machine-learning-based genotype imputation quality calibration.American journal of human genetics · 2022Article
- Black and White Adults With CKD Hospitalized With Acute Kidney Injury: Findings From the Chronic Renal Insufficiency Cohort (CRIC) Study.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2022Article
- Extent to which array genotyping and imputation with large reference panels approximate deep whole-genome sequencing.American journal of human genetics · 2022Article
- Article
31 more citing papers are in PubMed but not listed here.
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22 authors at 15 institutions in 2 countries.
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Abstract
Researchers have successfully applied exome sequencing to discover causal variants in selected individuals with familial, highly penetrant disorders. We demonstrate the utility of exome sequencing followed by imputation for discovering low-frequency variants associated with complex quantitative traits. We performed exome sequencing in a reference panel of 761 African Americans and then imputed newly discovered variants into a larger sample of more than 13,000 African Americans for association testing with the blood cell traits hemoglobin, hematocrit, white blood count, and platelet count. First, we illustrate the feasibility of our approach by demonstrating genome-wide-significant associations for variants that are not covered by conventional genotyping arrays; for example, one such association is that between higher platelet count and an MPL c.117G>T (p.Lys39Asn) variant encoding a p.Lys39Asn amino acid substitution of the thrombopoietin receptor gene (p = 1.5 × 10(-11)). Second, we identified an association between missense variants of LCT and higher white blood count (p = 4 × 10(-13)). Third, we identified low-frequency coding variants that might account for allelic heterogeneity at several known blood cell-associated loci: MPL c.754T>C (p.Tyr252His) was associated with higher platelet count; CD36 c.975T>G (p.Tyr325(∗)) was associated with lower platelet count; and several missense variants at the α-globin gene locus were associated with lower hemoglobin. By identifying low-frequency missense variants associated with blood cell traits not previously reported by genome-wide association studies, we establish that exome sequencing followed by imputation is a powerful approach to dissecting complex, genetically heterogeneous traits in large population-based studies.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.