Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants

Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in establ...

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Detalles Bibliográficos
Autores principales: Schilter, Kala F, Dubay, Sarah, Stachowiak, Matt, Kaplan, Alysia, Stauffenger, Abby, Reddi, Honey V
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259170/
https://www.ncbi.nlm.nih.gov/pubmed/37313115
http://dx.doi.org/10.1177/11772719231178618
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author Schilter, Kala F
Dubay, Sarah
Stachowiak, Matt
Kaplan, Alysia
Stauffenger, Abby
Reddi, Honey V
author_facet Schilter, Kala F
Dubay, Sarah
Stachowiak, Matt
Kaplan, Alysia
Stauffenger, Abby
Reddi, Honey V
author_sort Schilter, Kala F
collection PubMed
description Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in established guidelines, association with clinical significance such as FDA approved drugs and clinical trials, and finally comprehensive reporting. This study documents our experience with the customization and implementation of a software platform that facilitates these requirements for effective reporting of somatic variants.
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spelling pubmed-102591702023-06-13 Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants Schilter, Kala F Dubay, Sarah Stachowiak, Matt Kaplan, Alysia Stauffenger, Abby Reddi, Honey V Biomark Insights Original Research Precision medicine for oncology requires the evaluation of variants identified in molecular profiling of solid tumors and hematologic malignancies. This includes evaluation of pre-analytical and postanalytical quality metrics, variant interpretation, classification, and tiering as outlined in established guidelines, association with clinical significance such as FDA approved drugs and clinical trials, and finally comprehensive reporting. This study documents our experience with the customization and implementation of a software platform that facilitates these requirements for effective reporting of somatic variants. SAGE Publications 2023-06-02 /pmc/articles/PMC10259170/ /pubmed/37313115 http://dx.doi.org/10.1177/11772719231178618 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Original Research
Schilter, Kala F
Dubay, Sarah
Stachowiak, Matt
Kaplan, Alysia
Stauffenger, Abby
Reddi, Honey V
Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title_full Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title_fullStr Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title_full_unstemmed Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title_short Implementation of a Customized Tertiary Analysis Platform for the Reporting of Somatic Variants
title_sort implementation of a customized tertiary analysis platform for the reporting of somatic variants
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10259170/
https://www.ncbi.nlm.nih.gov/pubmed/37313115
http://dx.doi.org/10.1177/11772719231178618
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