ReviewCurrent opinion in genetics & development2017
The current state of clinical interpretation of sequence variants.
Review in Current opinion in genetics & development, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
42 citing papers in PubMed.
- Comprehensive Multiplatform Tyrosine Kinase Profiling Reveals Novel Actionable FGFR Aberrations across Sarcomas Affecting the Young.Molecular cancer therapeutics · 2026Article
- Using artificial intelligence (AI) to model clinical variant reporting for next generation sequencing (NGS) oncology assays.BioData mining · 2025Article
- There will always be variants of uncertain significance. Analysis of VUSs.NAR genomics and bioinformatics · 2024Article
- Article
- Article
- A genome-wide study of gastric intramucosal neoplasia based on somatic copy number alterations, gene mutations, and mRNA expression patterns.The journal of pathology. Clinical research · 2024Article
- Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.Molecular genetics and metabolism · 2023Article
- Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.NPJ genomic medicine · 2023Article
- Reasons and Resolutions for Inconsistent Variant Interpretation.Human mutation · 2023Review
- Evaluating use of changing technologies for rapid next-generation sequencing in pediatrics.Pediatric research · 2022Article
- New Developments and Possibilities in Reanalysis and Reinterpretation of Whole Exome Sequencing Datasets for Unsolved Rare Diseases Using Machine Learning Approaches.International journal of molecular sciences · 2022Review
- Findings from precision oncology in the clinic: rare, novel variants are a significant contributor to scaling molecular diagnostics.BMC medical genomics · 2022Article
- Current recommendations for clinical surveillance and genetic testing in rhabdoid tumor predisposition: a report from the SIOPE Host Genome Working Group.Familial cancer · 2021Article
- Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.Cancers · 2021Article
- Review
- Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing: An Interim Report of the Genomic Medicine for Ill Neonates and Infants (GEMINI) Study.JAMA pediatrics · 2021Article
- Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Specifications of the variant curation guidelines for ITGA2B/ITGB3: ClinGen Platelet Disorder Variant Curation Panel.Blood advances · 2021Article
- Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Whole genome, transcriptome and methylome profiling enhances actionable target discovery in high-risk pediatric cancer.Nature medicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Accurate and consistent variant classification is required for Precision Medicine. But clinical variant classification remains in its infancy. While recent guidelines put forth jointly by the American College of Medical Genetics and Genomics (ACMG) and Association of Molecular Pathology (AMP) for the classification of Mendelian variants has advanced the field, the degree of subjectivity allowed by these guidelines can still lead to inconsistent classification across clinical molecular genetic laboratories. In addition, there are currently no such guidelines for somatic cancer variants, only published institutional practices. Additional variant classification guidelines, including disease- or gene-specific criteria, along with inter-laboratory data sharing is critical for accurate and consistent variant interpretation.
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.