ArticleGenomics & informatics2012
Application of whole exome sequencing to identify disease-causing variants in inherited human diseases.
Article in Genomics & informatics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 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.
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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
47 citing papers in PubMed, 83 citations in OpenAlex.
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- Wiedemann-Steiner syndrome: description of genetic profiles and clinical phenotypes of 10 Korean pediatric patients.BMC medical genomics · 2025Article
- Diagnostic Yield of Next-Generation Sequencing for Rare Pediatric Genetic Disorders: A Single-Center Experience.Medical sciences (Basel, Switzerland) · 2025Article
- Allele age estimators designed for whole-genome datasets show only a moderate reduction in performance when applied to whole-exome datasets.G3 (Bethesda, Md.) · 2025Article
- Multifaceted Primary Ciliary Dyskinesia-A Case Report.Reports (MDPI) · 2025Article
- Whole exome sequencing identifies concurrentFrontiers in genetics · 2025Article
- The evolution of prenatal Whole Exome Sequencing: from cytogenetics to precision medicine.Archive of clinical cases · 2025Review
- Whole Exome Sequencing Identified a Stop-Gained Mutation in DYSF Gene Associated With Dysferlinopathy in an Iranian Family.International journal of genomics · 2025Article
- Identification of Novel and Recurrent Variants inJournal of clinical medicine · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Prenatal exome and genome sequencing for fetal structural abnormalities.American journal of obstetrics and gynecology · 2023Review
- Article
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Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
The recent advent of next-generation sequencing technologies has dramatically changed the nature of biomedical research. Human genetics is no exception-it has never been easier to interrogate human patient genomes at the nucleotide level to identify disease-associated variants. To further facilitate the efficiency of this approach, whole exome sequencing (WES) was first developed in 2009. Over the past three years, multiple groups have demonstrated the power of WES through robust disease-associated variant discoveries across a diverse spectrum of human diseases. Here, we review the application of WES to different types of inherited human diseases and discuss analytical challenges and possible solutions, with the aim of providing a practical guide for the effective use of this technology.
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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.