ReviewNature reviews. Genetics2013
Sequencing studies in human genetics: design and interpretation.
Review in Nature reviews. Genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 132 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
132 citing papers in PubMed.
- Probabilistic mapping of sub-genic intolerance reveals functional and disease-critical protein regions.bioRxiv : the preprint server for biology · 2026Article
- Base editing rescues seizures and sudden death in a SCN8A mutation-associated developmental epileptic encephalopathy model.The Journal of clinical investigation · 2026Article
- Realizing the promise of genome-wide association studies for effector gene prediction.Nature genetics · 2025Review
- Identification of polymorphisms and genetic diversity studies of interferon regulatory factor 3(IRF3) gene in Muturu,White Fulani and N'Dama cattle.Tropical animal health and production · 2025Article
- Pharmacogenomic landscape of TNF inhibitors in the Middle Eastern Qatari population.Frontiers in immunology · 2025Article
- An overview of recent technological developments in bovine genomics.Veterinary and animal science · 2024Review
- Predicted genetic burden and frequency of phenotype-associated variants in the horse.Scientific reports · 2024Article
- Review
- Review
- Potentials of single nucleotide polymorphisms and genetic diversity studies at HSP90AB1 gene in Nigerian White Fulani, Muturu, and N'Dama cattle breeds.Tropical animal health and production · 2024Article
- Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.Journal of neurology · 2024Article
- Clinical Implementation of Rare and NovelInternational journal of biological sciences · 2024Review
- The functional impact of rare variation across the regulatory cascade.Cell genomics · 2023Article
- The Type 2 Diabetes Knowledge Portal: An open access genetic resource dedicated to type 2 diabetes and related traits.Cell metabolism · 2023Article
- Mutation in the CCAL1 locus accounts for bidirectional process of human subchondral bone turnover and cartilage mineralization.Rheumatology (Oxford, England) · 2022Article
- A tree-based gene-environment interaction analysis with rare features.Statistical analysis and data mining · 2022Article
- Rare genetic variant burden in DPYD predicts severe fluoropyrimidine-related toxicity risk.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2022Article
- The Clinical Variant Analysis Tool: Analyzing the evidence supporting reported genomic variation in clinical practice.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Novel prostate cancer susceptibility gene SP6 predisposes patients to aggressive disease.Prostate cancer and prostatic diseases · 2021Article
- High-impactScience advances · 2021Article
72 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors.
Funding
Abstract
Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies.
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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.