ArticleGenome biology2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
Article in Genome biology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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Who cites it
62 citing papers in PubMed.
- Article
- Article
- Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.European journal of human genetics : EJHG · 2025Article
- The Evolution of Next-Generation Sequencing Technologies.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Pharmacogenomics: A Genetic Approach to Drug Development and Therapy.Pharmaceuticals (Basel, Switzerland) · 2024Review
- A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network.Genetics in medicine : official journal of the American College of Medical Genetics · 2023Article
- Clinical exome sequencing-Mistakes and caveats.Human mutation · 2022Review
- Identification of numerous novel disease-causing variants in patients with inherited retinal diseases, combining careful clinical-functional phenotyping with systematic, broad NGS panel-based genotyping.Molecular vision · 2022Article
- CRISPR Gene Editing of Human Primary NK and T Cells for Cancer Immunotherapy.Frontiers in oncology · 2022Review
- Pitfalls and challenges in genetic test interpretation: An exploration of genetic professionals experience with interpretation of results.Clinical genetics · 2021Article
- RCL1 copy number variants are associated with a range of neuropsychiatric phenotypes.Molecular psychiatry · 2021Article
- Improving diagnostics of rare genetic diseases with NGS approaches.Journal of community genetics · 2021Article
- Analysis of laboratory reporting practices using a quality assessment of a virtual patient.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Improved noninvasive fetal variant calling using standardized benchmarking approaches.Computational and structural biotechnology journal · 2021Article
- Phosphodiesterase 2A and 3B variants are associated with primary aldosteronism.Endocrine-related cancer · 2021Article
- Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians.Orphanet journal of rare diseases · 2020Article
- An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.Frontiers in genetics · 2020Article
- Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study.PloS one · 2020Article
- Data-driven Sublanguage Analysis for Cancer Genomics Knowledge Modeling: Applications in Mining Oncological Genetics Information from Patients' Genetic Reports.AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science · 2020Article
- Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
2 more citing papers are in PubMed but not listed here.
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198 authors.
Funding
Abstract
backgroundThere is tremendous potential for genome sequencing to improve clinical diagnosis and care once it becomes routinely accessible, but this will require formalizing research methods into clinical best practices in the areas of sequence data generation, analysis, interpretation and reporting. The CLARITY Challenge was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data. DNA samples were obtained from three families with heritable genetic disorders and genomic sequence data were donated by sequencing platform vendors. The challenge was to analyze and interpret these data with the goals of identifying disease-causing variants and reporting the findings in a clinically useful format. Participating contestant groups were solicited broadly, and an independent panel of judges evaluated their performance.
resultsA total of 30 international groups were engaged. The entries reveal a general convergence of practices on most elements of the analysis and interpretation process. However, even given this commonality of approach, only two groups identified the consensus candidate variants in all disease cases, demonstrating a need for consistent fine-tuning of the generally accepted methods. There was greater diversity of the final clinical report content and in the patient consenting process, demonstrating that these areas require additional exploration and standardization.
conclusionsThe CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases. There is remarkable convergence in bioinformatic techniques, but medical interpretation and reporting are areas that require further development by many groups.
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