Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS

Liquid biopsies allow the non-invasive detection of somatic mutations from tumours. Here, the authors develop and test MSK-ACCESS, an NGS-based clinical assay for identifying low frequency mutations in 129 genes and describe how it benefits patients in the clinic.

Guardado en:
Detalles Bibliográficos
Autores principales: A. Rose Brannon, Gowtham Jayakumaran, Monica Diosdado, Juber Patel, Anna Razumova, Yu Hu, Fanli Meng, Mohammad Haque, Justyna Sadowska, Brian J. Murphy, Tessara Baldi, Ian Johnson, Ryan Ptashkin, Maysun Hasan, Preethi Srinivasan, Anoop Balakrishnan Rema, Ivelise Rijo, Aaron Agarunov, Helen Won, Dilmi Perera, David N. Brown, Aliaksandra Samoila, Xiaohong Jing, Erika Gedvilaite, Julie L. Yang, Dennis P. Stephens, Jenna-Marie Dix, Nicole DeGroat, Khedoudja Nafa, Aijazuddin Syed, Alan Li, Emily S. Lebow, Anita S. Bowman, Donna C. Ferguson, Ying Liu, Douglas A. Mata, Rohit Sharma, Soo-Ryum Yang, Tejus Bale, Jamal K. Benhamida, Jason C. Chang, Snjezana Dogan, Meera R. Hameed, Jaclyn F. Hechtman, Christine Moung, Dara S. Ross, Efsevia Vakiani, Chad M. Vanderbilt, JinJuan Yao, Pedram Razavi, Lillian M. Smyth, Sarat Chandarlapaty, Gopa Iyer, Wassim Abida, James J. Harding, Benjamin Krantz, Eileen O’Reilly, Helena A. Yu, Bob T. Li, Charles M. Rudin, Luis Diaz, David B. Solit, Maria E. Arcila, Marc Ladanyi, Brian Loomis, Dana Tsui, Michael F. Berger, Ahmet Zehir, Ryma Benayed
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Q
Acceso en línea:https://doaj.org/article/ca7c61a9651341a5819f1ee6a4c47bfa
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:ca7c61a9651341a5819f1ee6a4c47bfa
record_format dspace
spelling oai:doaj.org-article:ca7c61a9651341a5819f1ee6a4c47bfa2021-12-02T17:24:08ZEnhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS10.1038/s41467-021-24109-52041-1723https://doaj.org/article/ca7c61a9651341a5819f1ee6a4c47bfa2021-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-24109-5https://doaj.org/toc/2041-1723Liquid biopsies allow the non-invasive detection of somatic mutations from tumours. Here, the authors develop and test MSK-ACCESS, an NGS-based clinical assay for identifying low frequency mutations in 129 genes and describe how it benefits patients in the clinic.A. Rose BrannonGowtham JayakumaranMonica DiosdadoJuber PatelAnna RazumovaYu HuFanli MengMohammad HaqueJustyna SadowskaBrian J. MurphyTessara BaldiIan JohnsonRyan PtashkinMaysun HasanPreethi SrinivasanAnoop Balakrishnan RemaIvelise RijoAaron AgarunovHelen WonDilmi PereraDavid N. BrownAliaksandra SamoilaXiaohong JingErika GedvilaiteJulie L. YangDennis P. StephensJenna-Marie DixNicole DeGroatKhedoudja NafaAijazuddin SyedAlan LiEmily S. LebowAnita S. BowmanDonna C. FergusonYing LiuDouglas A. MataRohit SharmaSoo-Ryum YangTejus BaleJamal K. BenhamidaJason C. ChangSnjezana DoganMeera R. HameedJaclyn F. HechtmanChristine MoungDara S. RossEfsevia VakianiChad M. VanderbiltJinJuan YaoPedram RazaviLillian M. SmythSarat ChandarlapatyGopa IyerWassim AbidaJames J. HardingBenjamin KrantzEileen O’ReillyHelena A. YuBob T. LiCharles M. RudinLuis DiazDavid B. SolitMaria E. ArcilaMarc LadanyiBrian LoomisDana TsuiMichael F. BergerAhmet ZehirRyma BenayedNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-12 (2021)
institution DOAJ
collection DOAJ
language EN
topic Science
Q
spellingShingle Science
Q
A. Rose Brannon
Gowtham Jayakumaran
Monica Diosdado
Juber Patel
Anna Razumova
Yu Hu
Fanli Meng
Mohammad Haque
Justyna Sadowska
Brian J. Murphy
Tessara Baldi
Ian Johnson
Ryan Ptashkin
Maysun Hasan
Preethi Srinivasan
Anoop Balakrishnan Rema
Ivelise Rijo
Aaron Agarunov
Helen Won
Dilmi Perera
David N. Brown
Aliaksandra Samoila
Xiaohong Jing
Erika Gedvilaite
Julie L. Yang
Dennis P. Stephens
Jenna-Marie Dix
Nicole DeGroat
Khedoudja Nafa
Aijazuddin Syed
Alan Li
Emily S. Lebow
Anita S. Bowman
Donna C. Ferguson
Ying Liu
Douglas A. Mata
Rohit Sharma
Soo-Ryum Yang
Tejus Bale
Jamal K. Benhamida
Jason C. Chang
Snjezana Dogan
Meera R. Hameed
Jaclyn F. Hechtman
Christine Moung
Dara S. Ross
Efsevia Vakiani
Chad M. Vanderbilt
JinJuan Yao
Pedram Razavi
Lillian M. Smyth
Sarat Chandarlapaty
Gopa Iyer
Wassim Abida
James J. Harding
Benjamin Krantz
Eileen O’Reilly
Helena A. Yu
Bob T. Li
Charles M. Rudin
Luis Diaz
David B. Solit
Maria E. Arcila
Marc Ladanyi
Brian Loomis
Dana Tsui
Michael F. Berger
Ahmet Zehir
Ryma Benayed
Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
description Liquid biopsies allow the non-invasive detection of somatic mutations from tumours. Here, the authors develop and test MSK-ACCESS, an NGS-based clinical assay for identifying low frequency mutations in 129 genes and describe how it benefits patients in the clinic.
format article
author A. Rose Brannon
Gowtham Jayakumaran
Monica Diosdado
Juber Patel
Anna Razumova
Yu Hu
Fanli Meng
Mohammad Haque
Justyna Sadowska
Brian J. Murphy
Tessara Baldi
Ian Johnson
Ryan Ptashkin
Maysun Hasan
Preethi Srinivasan
Anoop Balakrishnan Rema
Ivelise Rijo
Aaron Agarunov
Helen Won
Dilmi Perera
David N. Brown
Aliaksandra Samoila
Xiaohong Jing
Erika Gedvilaite
Julie L. Yang
Dennis P. Stephens
Jenna-Marie Dix
Nicole DeGroat
Khedoudja Nafa
Aijazuddin Syed
Alan Li
Emily S. Lebow
Anita S. Bowman
Donna C. Ferguson
Ying Liu
Douglas A. Mata
Rohit Sharma
Soo-Ryum Yang
Tejus Bale
Jamal K. Benhamida
Jason C. Chang
Snjezana Dogan
Meera R. Hameed
Jaclyn F. Hechtman
Christine Moung
Dara S. Ross
Efsevia Vakiani
Chad M. Vanderbilt
JinJuan Yao
Pedram Razavi
Lillian M. Smyth
Sarat Chandarlapaty
Gopa Iyer
Wassim Abida
James J. Harding
Benjamin Krantz
Eileen O’Reilly
Helena A. Yu
Bob T. Li
Charles M. Rudin
Luis Diaz
David B. Solit
Maria E. Arcila
Marc Ladanyi
Brian Loomis
Dana Tsui
Michael F. Berger
Ahmet Zehir
Ryma Benayed
author_facet A. Rose Brannon
Gowtham Jayakumaran
Monica Diosdado
Juber Patel
Anna Razumova
Yu Hu
Fanli Meng
Mohammad Haque
Justyna Sadowska
Brian J. Murphy
Tessara Baldi
Ian Johnson
Ryan Ptashkin
Maysun Hasan
Preethi Srinivasan
Anoop Balakrishnan Rema
Ivelise Rijo
Aaron Agarunov
Helen Won
Dilmi Perera
David N. Brown
Aliaksandra Samoila
Xiaohong Jing
Erika Gedvilaite
Julie L. Yang
Dennis P. Stephens
Jenna-Marie Dix
Nicole DeGroat
Khedoudja Nafa
Aijazuddin Syed
Alan Li
Emily S. Lebow
Anita S. Bowman
Donna C. Ferguson
Ying Liu
Douglas A. Mata
Rohit Sharma
Soo-Ryum Yang
Tejus Bale
Jamal K. Benhamida
Jason C. Chang
Snjezana Dogan
Meera R. Hameed
Jaclyn F. Hechtman
Christine Moung
Dara S. Ross
Efsevia Vakiani
Chad M. Vanderbilt
JinJuan Yao
Pedram Razavi
Lillian M. Smyth
Sarat Chandarlapaty
Gopa Iyer
Wassim Abida
James J. Harding
Benjamin Krantz
Eileen O’Reilly
Helena A. Yu
Bob T. Li
Charles M. Rudin
Luis Diaz
David B. Solit
Maria E. Arcila
Marc Ladanyi
Brian Loomis
Dana Tsui
Michael F. Berger
Ahmet Zehir
Ryma Benayed
author_sort A. Rose Brannon
title Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
title_short Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
title_full Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
title_fullStr Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
title_full_unstemmed Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS
title_sort enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free dna via paired normal sequencing using msk-access
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/ca7c61a9651341a5819f1ee6a4c47bfa
work_keys_str_mv AT arosebrannon enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT gowthamjayakumaran enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT monicadiosdado enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT juberpatel enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT annarazumova enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT yuhu enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT fanlimeng enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT mohammadhaque enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT justynasadowska enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT brianjmurphy enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT tessarabaldi enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT ianjohnson enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT ryanptashkin enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT maysunhasan enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT preethisrinivasan enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT anoopbalakrishnanrema enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT iveliserijo enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT aaronagarunov enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT helenwon enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT dilmiperera enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT davidnbrown enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT aliaksandrasamoila enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT xiaohongjing enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT erikagedvilaite enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT julielyang enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT dennispstephens enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jennamariedix enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT nicoledegroat enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT khedoudjanafa enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT aijazuddinsyed enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT alanli enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT emilyslebow enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT anitasbowman enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT donnacferguson enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT yingliu enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT douglasamata enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT rohitsharma enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT sooryumyang enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT tejusbale enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jamalkbenhamida enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jasoncchang enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT snjezanadogan enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT meerarhameed enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jaclynfhechtman enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT christinemoung enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT darasross enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT efseviavakiani enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT chadmvanderbilt enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jinjuanyao enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT pedramrazavi enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT lillianmsmyth enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT saratchandarlapaty enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT gopaiyer enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT wassimabida enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT jamesjharding enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT benjaminkrantz enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT eileenoreilly enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT helenaayu enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT bobtli enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT charlesmrudin enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT luisdiaz enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT davidbsolit enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT mariaearcila enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT marcladanyi enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT brianloomis enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT danatsui enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT michaelfberger enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT ahmetzehir enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
AT rymabenayed enhancedspecificityofclinicalhighsensitivitytumormutationprofilingincellfreednaviapairednormalsequencingusingmskaccess
_version_ 1718380935444955136