ArticleAmerican journal of human genetics2016
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Computational resources associating diseases with genotypes, phenotypes and exposures.Briefings in bioinformatics · 2019Pooled it
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- Ramp Sequence May Explain Synonymous Variant Association with Alzheimer's Disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (PILRA).Biomedicines · 2025Article
- Ramp sequence may explain synonymous variant association with Alzheimer's disease in the Paired Immunoglobulin-like Type 2 Receptor Alpha (bioRxiv : the preprint server for biology · 2025Article
- Language-model-based patient embedding using electronic health records facilitates phenotyping, disease forecasting, and progression analysis.Research square · 2024Article
- Clinical and Molecular Characterization ofInternational journal of molecular sciences · 2024Article
- Classic Galactosemia: Clinical and Computational Characterization of a NovelInternational journal of molecular sciences · 2023Review
- Toxicology knowledge graph for structural birth defects.Communications medicine · 2023Article
- Comparison of multiple imputation and other methods for the analysis of imputed genotypes.BMC genomics · 2023Article
- Characterization of Arabian Peninsula whole exomes: Contributing to the catalogue of human diversity.iScience · 2022Article
- Opportunities and challenges for the use of common controls in sequencing studies.Nature reviews. Genetics · 2022Review
- Targeting Representation: Interpreting Calls for Diversity in Precision Medicine Research.The Yale journal of biology and medicine · 2022Article
- A whole genome sequencing study of moderate to severe asthma identifies a lung function locus associated with asthma risk.Scientific reports · 2022Article
- A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.Genome medicine · 2022Review
- Further Evidence of Autosomal Recessive Inheritance ofJournal of cardiovascular development and disease · 2022Article
- Somatic and Germline Variant Calling from Next-Generation Sequencing Data.Advances in experimental medicine and biology · 2022Article
Corrections and comments
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Authors and funding
12 authors.
Funding
Abstract
Massively parallel whole-genome sequencing (WGS) data have ushered in a new era in human genetics. These data are now being used to understand the role of rare variants in complex traits and to advance the goals of precision medicine. The technological and computing advances that have enabled us to generate WGS data on thousands of individuals have also outpaced our ability to perform analyses in scientifically and statistically rigorous and thoughtful ways. The past several years have witnessed the application of whole-exome sequencing (WES) to complex traits and diseases. From our analysis of NHLBI Exome Sequencing Project (ESP) data, not only have a number of important disease and complex trait association findings emerged, but our collective experience offers some valuable lessons for WGS initiatives. These include caveats associated with generating automated pipelines for quality control and analysis of rare variants; the importance of studying minority populations; sample size requirements and efficient study designs for identifying rare-variant associations; and the significance of incidental findings in population-based genetic research. With the ESP as an example, we offer guidance and a framework on how to conduct a large-scale association study in the era of WGS.
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Registered trials
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 Socratic graph.