ArticleGenome medicine2017
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
Article in Genome medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 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
12 citing papers in PubMed, 24 citations in OpenAlex.
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- Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients.European journal of human genetics : EJHG · 2026Article
- Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.International journal of molecular sciences · 2024Article
- Structural and Dynamic Analyses of Pathogenic Variants inLife (Basel, Switzerland) · 2024Article
- Applications for Deep Learning in Epilepsy Genetic Research.International journal of molecular sciences · 2023Review
- Clinical and laboratory reporting impact of ACMG-AMP and modified ClinGen variant classification frameworks in MYH7-related cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model.Diagnosis (Berlin, Germany) · 2021Review
- Interactive Web-Based Resource for Annotation of Genetic Variants Causing Hereditary Angioedema (HADA): Database Development, Implementation, and Validation.Journal of medical Internet research · 2020Article
- How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules forHaematologica · 2020Review
- Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.Journal of the American Heart Association · 2020Article
- REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.Scientific reports · 2019Article
- Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.American journal of human genetics · 2018Article
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 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical genetics laboratories have recently adopted guidelines for the interpretation of sequence variants set by the American College of Medical Genetics (ACMG) and Association for Molecular Pathology (AMP). The use of in silico algorithms to predict whether amino acid substitutions result in human disease is inconsistent across clinical laboratories. The clinical genetics community must carefully consider how in silico predictions can be incorporated into variant interpretation in clinical practice.Please see related Research article: https://doi.org/10.1186/s13059-017-1353-5.
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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.