ArticleCold Spring Harbor molecular case studies2018
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Article in Cold Spring Harbor molecular case studies, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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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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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 35 citations in OpenAlex.
- A systematic literature review of disclosure practices and reported outcomes for medically actionable genomic secondary findings.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
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- Elective genomic sequencing for adults in research, clinical and commercial contexts.medRxiv : the preprint server for health sciences · 2026Article
- Should recipient parents have access to gamete donors' raw genomic data? Clinical, legal, and ethical considerations.Journal of assisted reproduction and genetics · 2025Article
- Frequency and Spectrum of Actionable Secondary Findings in the Maltese Population.Molecular genetics & genomic medicine · 2025Article
- Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.International journal of molecular sciences · 2025Article
- Health care utilization and behavior changes after workplace genetic testing at a large US health care system.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Article
- Mechanisms of RBM20 Cardiomyopathy: Insights From Model Systems.Circulation. Genomic and precision medicine · 2024Review
- CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation.Human mutation · 2024Article
- Functional role of UNC13D in immune diseases and its therapeutic applications.Frontiers in immunology · 2024Review
- Clinically actionable secondary findings in 130 triads from sub-Saharan African families with non-syndromic orofacial clefts.Molecular genetics & genomic medicine · 2023Article
- Identification of a Novel Nonsense Variant in theMolecular syndromology · 2023Article
- The Mutation Spectrum of Rare Variants in the Gene of Adenosine Triphosphate (ATP)-Binding Cassette Subfamily C Member 8 in Patients with a MODY Phenotype in Western Siberia.Journal of personalized medicine · 2023Article
- An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.Human genetics · 2022Article
- Role of Actionable Genes in Pursuing a True Approach of Precision Medicine in Monogenic Diabetes.Genes · 2022Review
- Primary Care Implementation of Genomic Population Health Screening Using a Large Gene Sequencing Panel.Frontiers in genetics · 2022Article
- A study of elective genome sequencing and pharmacogenetic testing in an unselected population.Molecular genetics & genomic medicine · 2021Article
- Cystic kidney diseases associated with mutations in phosphomannomutase 2 promotor: a large spectrum of phenotypes.Pediatric nephrology (Berlin, Germany) · 2021Article
- Single-molecule, full-length transcript isoform sequencing reveals disease-associated RNA isoforms in cardiomyocytes.Nature communications · 2021Article
- Revisiting Secondary Information Related to Pharmacogenetic Testing.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
Abstract
Exome sequencing is increasingly utilized in both clinical and nonclinical settings, but little is known about its utility in healthy individuals. Most previous studies on this topic have examined a small subset of genes known to be implicated in human disease and/or have used automated pipelines to assess pathogenicity of known variants. To determine the frequency of both medically actionable and nonactionable but medically relevant exome findings in the general population we assessed the exomes of 70 participants who have been extensively characterized over the past several years as part of a longitudinal integrated multiomics profiling study. We analyzed exomes by identifying rare likely pathogenic and pathogenic variants in genes associated with Mendelian disease in the Online Mendelian Inheritance in Man (OMIM) database. We then used American College of Medical Genetics (ACMG) guidelines for the classification of rare sequence variants. Additionally, we assessed pharmacogenetic variants. Twelve out of 70 (17%) participants had medically actionable findings in Mendelian disease genes. Five had phenotypes or family histories associated with their genetic variants. The frequency of actionable variants is higher than that reported in most previous studies and suggests added benefit from utilizing expanded gene lists and manual curation to assess actionable findings. A total of 63 participants (90%) had additional nonactionable findings, including 60 who were found to be carriers for recessive diseases and 21 who have increased Alzheimer's disease risk because of heterozygous or homozygous
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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.