Article
Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS.
Nature communications - 18 Jun 2021
Rose Brannon A, Jayakumaran Gowtham, Diosdado Monica, Patel Juber, Razumova Anna, Hu Yu, Meng Fanli, Haque Mohammad, Sadowska Justyna, Murphy Brian J, Baldi Tessara, Johnson Ian, Ptashkin Ryan, Hasan Maysun, Srinivasan Preethi, Rema Anoop Balakrishnan, Rijo Ivelise, Agarunov Aaron, Won Helen, Perera Dilmi, Brown David N, Samoila Aliaksandra, Jing Xiaohong, Gedvilaite Erika, Yang Julie L, Stephens Dennis P, Dix Jenna-Marie, DeGroat Nicole, Nafa Khedoudja, Syed Aijazuddin, Li Alan, Lebow Emily S, Bowman Anita S, Ferguson Donna C, Liu Ying, Mata Douglas A, Sharma Rohit, Yang Soo-Ryum, Bale Tejus, Benhamida Jamal K, Chang Jason C, Dogan Snjezana, Hameed Meera R, Hechtman Jaclyn F, Moung Christine, Ross Dara S, Vakiani Efsevia, Vanderbilt Chad M, Yao JinJuan, Razavi Pedram, Smyth Lillian M, Chandarlapaty Sarat, Iyer Gopa, Abida Wassim, Harding James J, Krantz Benjamin, O'Reilly Eileen, Yu Helena A, Li Bob T, Rudin Charles M, Diaz Luis, Solit David B, Arcila Maria E, Ladanyi Marc, Loomis Brian, Tsui Dana, Berger Michael F, Zehir Ahmet, Benayed Ryma
Abstract excerpt
Circulating cell-free DNA from blood plasma of cancer patients can be used to non-invasively interrogate somatic tumor alterations. Here we develop MSK-ACCESS (Memorial Sloan Kettering - Analysis of Circulating cfDNA to Examine Somatic Status), an NGS assay for detection of very low frequency somatic alterations in 129 genes. Analytical validation demonstrated 92% sensitivity in de-novo mutation calling down to...
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