+ REEV (REEV Explains and Evaluates Variants) is a web-based tool designed to assist + clinicians and researchers in the field of rare disease genetics. This tool empowers users + by providing comprehensive and aggregated information on genomic variants. +
++ Whether you're a medical professional seeking insights into genetic variations or a + researcher investigating rare diseases, REEV is here to streamline your workflow. Our + platform combines cutting-edge technology with user-friendly interfaces to ensure that you + have the resources you need to make informed decisions. +
++ REEV's documentation on ACMG Sequence Variant Criteria provides a comprehensive guide for + the automated classification of sequence variants. This process emphasizes transparency for + users, ensuring they receive detailed reports of evidence supporting or contradicting each + criterion. It is meticulously designed to inform users why certain criteria are applied or + omitted in specific cases, such as when one criterion may invalidate others due to the + nature of the variant (e.g., BA1 disabling all other benign criteria). In addition, the ACMG + Sequence Variant Details section elaborates on the implementation of these classification + criteria. This includes a detailed description of the data sources utilized in the + classification of sequence variants. These sources form the foundation of the classification + process, aiding in the accurate and comprehensive evaluation of sequence variants. +
++ The ACMG CNV Criteria section in REEV's documentation outlines the implementation of + criteria for CNVs (Copy Number Variants), based on guidelines from Riggs et al. (2020). + These criteria are critical for understanding and classifying CNVs in the context of genetic + analysis and rare disease research. Furthermore, the ACMG CNV Details page provides in-depth + information about the assessment criteria for CNVs. This includes an overview of the data + used for classification, emphasizing the thorough and detailed approach REEV takes in + evaluating CNVs. The data used in this classification process is pivotal for understanding + the genetic implications of CNVs and their potential impact on rare genetic disorders. +
++ Overall, REEV's approach to both sequence and CNV variants is characterized by a meticulous + and transparent methodology. The platform's use of comprehensive data sources and adherence + to established criteria ensures that it remains a valuable tool for researchers and + clinicians in the field of rare disease genetics. +
++ For more detailed information, please visit our + documentation. +
+
+
+ We'd love to hear from you! Feel free to reach out to us through any of the following + channels: +
++ See + + privacy policy of the Berlin Institute of Health + +
+REEV is for research use only software
++ The software is provided "as is," without warranty of any kind, express or implied, + including but not limited to the warranties of merchantability, fitness for a particular + purpose, and noninfringement. In no event shall the authors or copyright holders be liable + for any claim, damages, or other liability, whether in an action of contract, tort, or + otherwise, arising from, out of, or in connection with the software or the use or other + dealings in the software. +
+- REEV (REEV Explains and Evaluates Variants) is a web-based tool designed to assist - clinicians and researchers in the field of rare disease genetics. This tool empowers - users by providing comprehensive and aggregated information on genomic variants. -
-- Whether you're a medical professional seeking insights into genetic variations or a - researcher investigating rare diseases, REEV is here to streamline your workflow. Our - platform combines cutting-edge technology with user-friendly interfaces to ensure that - you have the resources you need to make informed decisions. -
-Sequence Variants in REEV
-- REEV's documentation on ACMG Sequence Variant Criteria provides a comprehensive guide - for the automated classification of sequence variants. This process emphasizes - transparency for users, ensuring they receive detailed reports of evidence supporting - or contradicting each criterion. It is meticulously designed to inform users why - certain criteria are applied or omitted in specific cases, such as when one criterion - may invalidate others due to the nature of the variant (e.g., BA1 disabling all other - benign criteria). In addition, the ACMG Sequence Variant Details section elaborates on - the implementation of these classification criteria. This includes a detailed - description of the data sources utilized in the classification of sequence variants. - These sources form the foundation of the classification process, aiding in the - accurate and comprehensive evaluation of sequence variants. -
-Copy Number Variants in REEV
-- The ACMG CNV Criteria section in REEV's documentation outlines the implementation of - criteria for CNVs (Copy Number Variants), based on guidelines from Riggs et al. - (2020). These criteria are critical for understanding and classifying CNVs in the - context of genetic analysis and rare disease research. Furthermore, the ACMG CNV - Details page provides in-depth information about the assessment criteria for CNVs. - This includes an overview of the data used for classification, emphasizing the - thorough and detailed approach REEV takes in evaluating CNVs. The data used in this - classification process is pivotal for understanding the genetic implications of CNVs - and their potential impact on rare genetic disorders. -
-- Overall, REEV's approach to both sequence and CNV variants is characterized by a - meticulous and transparent methodology. The platform's use of comprehensive data - sources and adherence to established criteria ensures that it remains a valuable tool - for researchers and clinicians in the field of rare disease genetics. -
-- For more detailed information, please visit our - documentation. -
-
-
- We'd love to hear from you! Feel free to reach out to us through any of the following - channels: -
-- See - - privacy policy of the Berlin Institute of Health - -
-REEV is for research use only software
-- The software is provided "as is," without warranty of any kind, express or implied, - including but not limited to the warranties of merchantability, fitness for a - particular purpose, and noninfringement. In no event shall the authors or copyright - holders be liable for any claim, damages, or other liability, whether in an action of - contract, tort, or otherwise, arising from, out of, or in connection with the software - or the use or other dealings in the software. -
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