ReviewGenome biology2011
Unlocking Mendelian disease using exome sequencing.
Review in Genome biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 144 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.
Genomic Sequencing for Childhood Risk and Newborn Illness (The BabySeq Project)
Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit
The China Neonatal Genomes Project
Who cites it
144 citing papers in PubMed.
- The BabySeq project: implementing genomic sequencing in newborns.BMC pediatrics · 2018Trial
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- NanoVar: a comprehensive workflow for structural variant detection to uncover the genome's hidden patterns.Nature protocols · 2026Review
- A systematic analysis of contemporary whole exome sequencing capture kits to optimise high-coverage capture of CCDS regions.NAR genomics and bioinformatics · 2025Article
- Article
- A Genetically Confirmed Case of ATR-X Syndrome Without Alpha-Thalassemia: First Case Reported From Jordan.Cureus · 2025Article
- A guide to gene-disease relationships in nephrology.Nature reviews. Nephrology · 2025Review
- Genetic variant classification by predicted protein structure: A case study on IRF6.Computational and structural biotechnology journal · 2024Article
- Closing the gap: Solving complex medically relevant genes at scale.medRxiv : the preprint server for health sciences · 2024Article
- Next-generation sequencing and bioinformatics in rare movement disorders.Nature reviews. Neurology · 2024Review
- Article
- Long-read sequencing for brain tumors.Frontiers in oncology · 2024Review
- Epi-SSA: A novel epistasis detection method based on a multi-objective sparrow search algorithm.PloS one · 2024Article
- Long-read sequencing revealing intragenic deletions in exome-negative spastic paraplegias.Journal of human genetics · 2023Article
- Ophthalmic genetic counselling: emerging trends in practice perspectives in Asia.Journal of community genetics · 2023Article
- Screening by single-molecule molecular inversion probes targeted sequencing panel of candidate genes of infertility in azoospermic infertile Jordanian males.Human fertility (Cambridge, England) · 2022Article
- Impact of returning unsolicited genomic results to nongenetic health care providers in the eMERGE III Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- Review
- Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples.Journal of genetic counseling · 2022Article
- Recent advances and challenges of rare variant association analysis in the biobank sequencing era.Frontiers in genetics · 2022Review
84 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
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Exome sequencing is revolutionizing Mendelian disease gene identification. This results in improved clinical diagnosis, more accurate genotype-phenotype correlations and new insights into the role of rare genomic variation in disease.
Indexed as
Identifiers
What 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.