The Residue number system (RNS) has been employed for efficient parallel carry-free arithmetic computations in DSP applications. Residue addition is the instrumental component in implementing residue converters and channels in RNS. On the other side Reversible Logic is becoming one of the potential power optimization techniques in Low Power CMOS design. In this research paper we have proposed CMOS implementation of two different reversible logic architectures for 4-bit generic
e14074 Background: Accurate and comprehensive interpretation of genomic variants has become a bottleneck in clinical sequencing applications due to the accelerated implementation of precision oncology and the rapid growth of relevant biomedical findings. We therefore are motivated to build Ephesus, a framework enabling curation of clinical evidence for biomarkers in somatic cancers. Currently Ephesus is the primary content source for Roche NAVIFY Mutation Profiler (NMP). Methods: Ephesus’ data model ensures adherence to best practice in clinical genomic content curation. Variant classification followed the AMP guidelines for somatic variant interpretation. Approvals and recommendations from regulatory agencies and organizations (FDA, NCCN, etc.) are applied on a regional basis. The data model is mapped to a set of PostgreSQL relational tables. Strategies such as data normalization according to standard ontologies, a submit-review-approval workflow with change logs, and biologically relevant datatype constraints are adopted to enforce data integrity. Ephesus is deployed as a web application, of which the UI allows users to conduct edits, filtering, sorting and bulk operations on entities by attributes. To maximize curation efficiency, a number of inference rules are applied before the content is ingested into NMP. Results: Currently Ephesus is developed to guide data collection, browsing and summarizing related to these primary entities: Biomarkers, Evidence items, Genes, Variants, Variant groups, and Drugs. The content exported on 2020/01/27 contains > 170K biomarker profiles (including combinations), in the context of 13 major cancer types. To evaluate the clinical reporting value of the curated knowledge, more than 60k real clinical cancer patient samples from the AACR GENIE project were queried against Ephesus. We compared the results to the latest content from several major knowledgebases. We see that the performance of Ephesus/NMP excels the others. Conclusions: We have developed Ephesus, a practical content curation framework which provides a highly structured and user-friendly environment for clinically relevant somatic biomarkers. The framework improved the productivity and quality of the manual curation, met clinical interpretation scope and complexity, and assures data integrity and auditability. [Table: see text]
Accurate and comprehensive interpretation of genomic variants has become a bottleneck in clinical sequencing applications due to the implementation of precision oncology and the growth of biomedical findings. We therefore were motivated to build Ephesus, a framework enabling curation of predictive, prognostic and diagnostic evidence for clinical biomarkers in somatic cancers. Currently Ephesus is the primary content source for Roche NAVIFY Mutation Profiler (RUO). The Ephesus' data model ensures adherence to best practices in the field of clinical genomic content curation. Somatic variant classification followed the AMP guidelines. Approvals and recommendations from regulatory agencies and clinical practice guidelines were applied on a regional basis. The data model is mapped to a set of relational tables. Strategies such as data normalization according to standard ontologies, a submit-review-approval workflow with change logs, and biologically relevant data constraints are adopted to enforce data integrity. Ephesus is deployed as a web application whose UI allows users to conduct edits, sorting, filtering, and bulk operations on entities attributes. In order to minimize the manual effort and maximize content coverage, a number of inference rules are applied before the content is ingested into NMP. Currently Ephesus is developed to guide data collection, browsing and summarizing related to primary entities such as Biomarkers, Evidence items, Genes, Variants, Variant groups, and Drugs. The content from 10/28/20 snapshot contains 233k biomarker profiles (including biomarker combinations), in the context of 17 major cancer types. To evaluate the clinical reporting value of the curated knowledge, ~60k clinical cancer patient samples from the AACR GENIE project were queried against Ephesus. Compared our results against those from 3 other major knowledgebases (snapshotted at the same time as Ephesus), we see the performance of Ephesus/NMP exceeds all these knowledgebases. Patients% with at least one interpretation (numbers in parenthesis include matching by inferences)KnowledgebaseVariantVariant & diseaseTier I variant & diseaseEphesus53 (91)40 (89)19 (25)CGI3573CIViC402215ClinVar452313 Citation Format: Jian Li, Lili Niu, Fnu Kinshuk, Bernie Chu, John Mu, Nicole Greene, Vivian Douglas, Caitlin Schartner, Kalpana Kannan, Priyanka Rao, Shuba Krishna. Ephesus - A curated content knowledgebase for the clinical interpretation of genomic variants [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2021; 2021 Apr 10-15 and May 17-21. Philadelphia (PA): AACR; Cancer Res 2021;81(13_Suppl):Abstract nr 169.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
customersupport@researchsolutions.com
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.