ReviewNature reviews. Genetics2011
Exome sequencing as a tool for Mendelian disease gene discovery.
Review in Nature reviews. Genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 852 papers, 2 of them syntheses that pooled it.
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.
Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects
LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies
Who cites it
852 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Pooled it
- A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2020Pooled it
- Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Splice-site variants in neurology: from molecular mechanisms to clinical interpretation - a focused review.Neurogenetics · 2026Review
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Likelihood-based optimization enables accurate copy number estimation for paralogous genes using exome data.Bioinformatics (Oxford, England) · 2026Article
- Targeting KITENIN signaling in cancer progression and therapeutic resistance: mechanistic insights and future directions.Cancer cell international · 2026Review
- A single-center study: three years of experience with whole-exome sequencing in diagnosing pediatric hematological disorders.Italian journal of pediatrics · 2026Article
- Comprehensive review and assessment of multi-species splicing variant prediction: task-specific deep learning models and genomic foundation models.Briefings in bioinformatics · 2026Review
- Artificial Intelligence in genomics: a comprehensive survey of methods, resources, challenges, and prospects.Briefings in bioinformatics · 2026Review
- A TLR8 Variant Identified From Whole Exome Sequencing as a Sepsis-Prone Mutation.FASEB bioAdvances · 2026Article
- Genetic analysis of neurodegenerative diseases.The Journal of clinical investigation · 2026Review
- Genetic Associations with Pectus Excavatum: A Systematic Review.Current issues in molecular biology · 2026Review
- Article
- Establishment of the endocrine variant extractor and its clinical application in identifying a novelFrontiers in endocrinology · 2026Article
- Untargeted Metabolomics for Diagnosis, Monitoring, and Understanding the Pathophysiology of Inherited Metabolic Disorders.Journal of inherited metabolic disease · 2026Review
- The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts.Genetics research · 2026Review
- Article
- Exome Sequencing and Molecular Modeling Reveal Novel Loci in Familial Multiple Sclerosis: The Importance of BTNL3 and BTNL8 in Disease Pathogenesis.Molecular neurobiology · 2025Article
- Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.Annals of medicine · 2025Article
792 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
7 authors.
Funding
Abstract
Exome sequencing - the targeted sequencing of the subset of the human genome that is protein coding - is a powerful and cost-effective new tool for dissecting the genetic basis of diseases and traits that have proved to be intractable to conventional gene-discovery strategies. Over the past 2 years, experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders. Additionally, exome sequencing is being adapted to explore the extent to which rare alleles explain the heritability of complex diseases and health-related traits. These advances also set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.
Indexed as
Identifiers
21946919What OpenQuestion holds
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.