ReviewFrontiers in genetics2015
A review of study designs and statistical methods for genomic epidemiology studies using next generation sequencing.
Review in Frontiers in genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed.
- Integrating Metabolic and MicroRNA Profiling to the Diagnostics of Endometriosis: A Pilot Study.International journal of molecular sciences · 2026Article
- Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.International journal of molecular sciences · 2025Observational
- The Relative Roles of Selection and Drift in the Chaffinch Radiation (Aves:Ecology and evolution · 2025Article
- FedGMMAT: Federated generalized linear mixed model association tests.PLoS computational biology · 2024Article
- A genome-wide association study of the occurrence of genetic variations in Edwardsiella piscicida, Vibrio harveyi, and Streptococcus parauberis under stressed environments.Journal of fish diseases · 2022Article
- Trends in Population-Based Studies: Molecular and Digital Epidemiology (Review).Sovremennye tekhnologii v meditsine · 2022Review
- CStone: A de novo transcriptome assembler for short-read data that identifies non-chimeric contigs based on underlying graph structure.PLoS computational biology · 2021Article
- Next-Generation Sequencing in Cancer.Journal of maxillofacial and oral surgery · 2021Review
- Genetic variations analysis for complex brain disease diagnosis using machine learning techniques: opportunities and hurdles.PeerJ. Computer science · 2021Article
- Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.Frontiers in genetics · 2020Review
- Transcriptome profiling and pathway analysis of the effects of mono-(2-ethylhexyl) phthalate in mouse Sertoli cells.Experimental and therapeutic medicine · 2019Article
- Genome, transcriptome and proteome: the rise of omics data and their integration in biomedical sciences.Briefings in bioinformatics · 2018Review
- A new haplotype block detection method for dense genome sequencing data based on interval graph modeling of clusters of highly correlated SNPs.Bioinformatics (Oxford, England) · 2018Article
- Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.BMC genomics · 2017Article
- Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study.Genetic epidemiology · 2017Article
- Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans.Journal of human genetics · 2017Article
- A Rare Variant inMolecular neuropsychiatry · 2016Article
- Genomic characterization of esophageal squamous cell carcinoma: Insights from next-generation sequencing.World journal of gastroenterology · 2016Review
- GenoWAP: GWAS signal prioritization through integrated analysis of genomic functional annotation.Bioinformatics (Oxford, England) · 2016Article
- Role of non-coding sequence variants in cancer.Nature reviews. Genetics · 2016Review
Corrections and comments
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Authors and funding
3 authors.
Funding
Abstract
Results from numerous linkage and association studies have greatly deepened scientists' understanding of the genetic basis of many human diseases, yet some important questions remain unanswered. For example, although a large number of disease-associated loci have been identified from genome-wide association studies in the past 10 years, it is challenging to interpret these results as most disease-associated markers have no clear functional roles in disease etiology, and all the identified genomic factors only explain a small portion of disease heritability. With the help of next-generation sequencing (NGS), diverse types of genomic and epigenetic variations can be detected with high accuracy. More importantly, instead of using linkage disequilibrium to detect association signals based on a set of pre-set probes, NGS allows researchers to directly study all the variants in each individual, therefore promises opportunities for identifying functional variants and a more comprehensive dissection of disease heritability. Although the current scale of NGS studies is still limited due to the high cost, the success of several recent studies suggests the great potential for applying NGS in genomic epidemiology, especially as the cost of sequencing continues to drop. In this review, we discuss several pioneer applications of NGS, summarize scientific discoveries for rare and complex diseases, and compare various study designs including targeted sequencing and whole-genome sequencing using population-based and family-based cohorts. Finally, we highlight recent advancements in statistical methods proposed for sequencing analysis, including group-based association tests, meta-analysis techniques, and annotation tools for variant prioritization.
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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 OpenQuestion graph.