ArticleGenome biology2011
Reducing the exome search space for mendelian diseases using genetic linkage analysis of exome genotypes.
Article 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 trial NCT02146872 (Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects), which is not on this map. Cited by 49 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.
Premature Coronary Artery Disease - Clinical and Molecular Genetic Aspects
Who cites it
49 citing papers in PubMed.
- Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Proceedings of the National Academy of Sciences of the United States of America · 2016Trial
- A novel deletion upstream ofFrontiers in genetics · 2025Article
- Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.Nature genetics · 2022Article
- Molecular Diagnostics of Ciliopathies and Insights Into Novel Developments in Diagnosing Rare Diseases.British journal of biomedical science · 2022Review
- PedMiner: a tool for linkage analysis-based identification of disease-associated variants using family based whole-exome sequencing data.Briefings in bioinformatics · 2021Review
- The Complex and Diverse Genetic Architecture of Dilated Cardiomyopathy.Circulation research · 2021Review
- A linkage and exome study of multiplex families with bipolar disorder implicates rare coding variants of ANK3 and additional rare alleles at 10q11-q21.Journal of psychiatry & neuroscience : JPN · 2021Article
- Novel Loss-of-Function Mutations inFrontiers in endocrinology · 2021Article
- Evaluation of population stratification adjustment using genome-wide or exonic variants.Genetic epidemiology · 2020Article
- Using linkage studies combined with whole-exome sequencing to identify novel candidate genes for familial colorectal cancer.International journal of cancer · 2020Article
- A DNAH17 missense variant causes flagella destabilization and asthenozoospermia.The Journal of experimental medicine · 2020Article
- Identification of a Novel Candidate Gene for Serrated Polyposis Syndrome Germline Predisposition by Performing Linkage Analysis Combined With Whole-Exome Sequencing.Clinical and translational gastroenterology · 2019Article
- Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease.Nature genetics · 2019Article
- Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.American journal of human genetics · 2019Article
- No novel, high penetrant gene might remain to be found in Japanese patients with unknown MODY.Journal of human genetics · 2018Article
- An examination of multiple classes of rare variants in extended families with bipolar disorder.Translational psychiatry · 2018Article
- Applying Two Different Bioinformatic Approaches to Discover Novel Genes Associated with Hereditary Hearing Loss via Whole-Exome Sequencing: ENDEAVOUR and HomozygosityMapper.Advanced biomedical research · 2018Article
- Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.European journal of human genetics : EJHG · 2017Article
- Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance.Nature genetics · 2017Article
- VarElect: the phenotype-based variation prioritizer of the GeneCards Suite.BMC genomics · 2016Article
Corrections and comments
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Authors and funding
11 authors.
Funding
Abstract
Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered, even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data, removing the need for separate array-based genotyping. We provide software to facilitate such analyses.
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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.