ArticleAmerican journal of human genetics2016
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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.
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Who cites it
31 citing papers in PubMed.
- Comprehensive evaluation of ACMG/AMP-based variant classification tools.Bioinformatics (Oxford, England) · 2026Article
- Article
- Reasons and Resolutions for Inconsistent Variant Interpretation.Human mutation · 2023Review
- Data sharing to improve concordance in variant interpretation across laboratories: results from the Canadian Open Genetics Repository.Journal of medical genetics · 2022Article
- Reanalysis of eMERGE phase III sequence variants in 10,500 participants and infrastructure to support the automated return of knowledge updates.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- From the patient to the population: Use of genomics for population screening.Frontiers in genetics · 2022Article
- Adaptation of ACMG-ClinGen Technical Standards for Copy Number Variant Interpretation Concordance.Frontiers in genetics · 2022Article
- Scalable Newborn Screening Solutions: Bioinformatics and Next-Generation Sequencing.International journal of neonatal screening · 2021Article
- Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Quantification of Discordant Variant Interpretations in a Large Family-Based Study of Li-Fraumeni Syndrome.JCO precision oncology · 2021Article
- Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.American journal of human genetics · 2020Article
- A Person-Centered Approach to Cardiovascular Genetic Testing.Cold Spring Harbor perspectives in medicine · 2020Review
- An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.Frontiers in genetics · 2020Article
- Article
- ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.Human mutation · 2018Article
- Copy number variant discrepancy resolution using the ClinGen dosage sensitivity map results in updated clinical interpretations in ClinVar.Human mutation · 2018Article
- Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.Human mutation · 2018Article
- Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.Human mutation · 2018Article
- Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.American journal of human genetics · 2018Article
- Rapid communication of efforts to resolve differences or update variant interpretations in ClinVar through case-level data sharing.Cold Spring Harbor molecular case studies · 2018Article
Corrections and comments
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Authors and funding
6 authors.
Funding
Abstract
Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing laboratories impede the effective use of genetic test results in clinical medicine. To better understand the underpinnings of these discrepancies, we quantified differences in variant classification internally over time and those between our diagnostic laboratory and other laboratories and resources. We assessed the factors that contribute to these discrepancies and those that facilitate their resolution. Our process resolved 72% of nearly 300 discrepancies between pairs of laboratories to within a one-step classification difference and identified key sources of data that facilitate changes in variant interpretation. The identification and harmonization of variant discrepancies will maximize the clinical use of genetic information; these processes will be fostered by the accumulation of additional population data as well as the sharing of data between diagnostic laboratories.
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Registered trials
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