Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer

Abstract Liquid biopsies have the potential to revolutionize cancer care through non-invasive early detection of tumors. Developing a robust liquid biopsy test requires collecting high-dimensional data from a large number of blood samples across heterogeneous groups of patients. We propose that the...

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Main Authors: Mehran Karimzadeh, Amir Momen-Roknabadi, Taylor B. Cavazos, Yuqi Fang, Nae-Chyun Chen, Michael Multhaup, Jennifer Yen, Jeremy Ku, Jieyang Wang, Xuan Zhao, Philip Murzynowski, Kathleen Wang, Rose Hanna, Alice Huang, Diana Corti, Dang Nguyen, Ti Lam, Seda Kilinc, Patrick Arensdorf, Kimberly H. Chau, Anna Hartwig, Lisa Fish, Helen Li, Babak Behsaz, Olivier Elemento, James Zou, Fereydoun Hormozdiari, Babak Alipanahi, Hani Goodarzi
Format: Article
Language:English
Published: Nature Portfolio 2024-11-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/s41467-024-53851-9
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author Mehran Karimzadeh
Amir Momen-Roknabadi
Taylor B. Cavazos
Yuqi Fang
Nae-Chyun Chen
Michael Multhaup
Jennifer Yen
Jeremy Ku
Jieyang Wang
Xuan Zhao
Philip Murzynowski
Kathleen Wang
Rose Hanna
Alice Huang
Diana Corti
Dang Nguyen
Ti Lam
Seda Kilinc
Patrick Arensdorf
Kimberly H. Chau
Anna Hartwig
Lisa Fish
Helen Li
Babak Behsaz
Olivier Elemento
James Zou
Fereydoun Hormozdiari
Babak Alipanahi
Hani Goodarzi
author_facet Mehran Karimzadeh
Amir Momen-Roknabadi
Taylor B. Cavazos
Yuqi Fang
Nae-Chyun Chen
Michael Multhaup
Jennifer Yen
Jeremy Ku
Jieyang Wang
Xuan Zhao
Philip Murzynowski
Kathleen Wang
Rose Hanna
Alice Huang
Diana Corti
Dang Nguyen
Ti Lam
Seda Kilinc
Patrick Arensdorf
Kimberly H. Chau
Anna Hartwig
Lisa Fish
Helen Li
Babak Behsaz
Olivier Elemento
James Zou
Fereydoun Hormozdiari
Babak Alipanahi
Hani Goodarzi
author_sort Mehran Karimzadeh
collection DOAJ
description Abstract Liquid biopsies have the potential to revolutionize cancer care through non-invasive early detection of tumors. Developing a robust liquid biopsy test requires collecting high-dimensional data from a large number of blood samples across heterogeneous groups of patients. We propose that the generative capability of variational auto-encoders enables learning a robust and generalizable signature of blood-based biomarkers. In this study, we analyze orphan non-coding RNAs (oncRNAs) from serum samples of 1050 individuals diagnosed with non-small cell lung cancer (NSCLC) at various stages, as well as sex-, age-, and BMI-matched controls. We demonstrate that our multi-task generative AI model, Orion, surpasses commonly used methods in both overall performance and generalizability to held-out datasets. Orion achieves an overall sensitivity of 94% (95% CI: 87%–98%) at 87% (95% CI: 81%–93%) specificity for cancer detection across all stages, outperforming the sensitivity of other methods on held-out validation datasets by more than  ~ 30%.
format Article
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institution Kabale University
issn 2041-1723
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publishDate 2024-11-01
publisher Nature Portfolio
record_format Article
series Nature Communications
spelling doaj-art-bfa41ff610b944e99ea17c73581fe4012024-11-24T12:35:12ZengNature PortfolioNature Communications2041-17232024-11-0115111210.1038/s41467-024-53851-9Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancerMehran Karimzadeh0Amir Momen-Roknabadi1Taylor B. Cavazos2Yuqi Fang3Nae-Chyun Chen4Michael Multhaup5Jennifer Yen6Jeremy Ku7Jieyang Wang8Xuan Zhao9Philip Murzynowski10Kathleen Wang11Rose Hanna12Alice Huang13Diana Corti14Dang Nguyen15Ti Lam16Seda Kilinc17Patrick Arensdorf18Kimberly H. Chau19Anna Hartwig20Lisa Fish21Helen Li22Babak Behsaz23Olivier Elemento24James Zou25Fereydoun Hormozdiari26Babak Alipanahi27Hani Goodarzi28Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Exai Bio Inc.Weill Cornell MedicineStanford UniversityExai Bio Inc.Exai Bio Inc.University of CaliforniaAbstract Liquid biopsies have the potential to revolutionize cancer care through non-invasive early detection of tumors. Developing a robust liquid biopsy test requires collecting high-dimensional data from a large number of blood samples across heterogeneous groups of patients. We propose that the generative capability of variational auto-encoders enables learning a robust and generalizable signature of blood-based biomarkers. In this study, we analyze orphan non-coding RNAs (oncRNAs) from serum samples of 1050 individuals diagnosed with non-small cell lung cancer (NSCLC) at various stages, as well as sex-, age-, and BMI-matched controls. We demonstrate that our multi-task generative AI model, Orion, surpasses commonly used methods in both overall performance and generalizability to held-out datasets. Orion achieves an overall sensitivity of 94% (95% CI: 87%–98%) at 87% (95% CI: 81%–93%) specificity for cancer detection across all stages, outperforming the sensitivity of other methods on held-out validation datasets by more than  ~ 30%.https://doi.org/10.1038/s41467-024-53851-9
spellingShingle Mehran Karimzadeh
Amir Momen-Roknabadi
Taylor B. Cavazos
Yuqi Fang
Nae-Chyun Chen
Michael Multhaup
Jennifer Yen
Jeremy Ku
Jieyang Wang
Xuan Zhao
Philip Murzynowski
Kathleen Wang
Rose Hanna
Alice Huang
Diana Corti
Dang Nguyen
Ti Lam
Seda Kilinc
Patrick Arensdorf
Kimberly H. Chau
Anna Hartwig
Lisa Fish
Helen Li
Babak Behsaz
Olivier Elemento
James Zou
Fereydoun Hormozdiari
Babak Alipanahi
Hani Goodarzi
Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
Nature Communications
title Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
title_full Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
title_fullStr Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
title_full_unstemmed Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
title_short Deep generative AI models analyzing circulating orphan non-coding RNAs enable detection of early-stage lung cancer
title_sort deep generative ai models analyzing circulating orphan non coding rnas enable detection of early stage lung cancer
url https://doi.org/10.1038/s41467-024-53851-9
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