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Somatic mutation

Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, Edward Smith, Dennis J. Konczyk, Patrick J. Smits, Christopher L. Sudduth, Christopher Stapleton, Aman Patel, Sanda Alexandrescu, Matthew L. Warman, Arin K. Greene

published 31 Dec 2019

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Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, Xiaohua Ou, Zhen Zhao, Changming Hu, Mingming Sun, Feifei Liu, Junhao Deng, Weili Gu, Jiaying An, Qingling Zhang, Xiaoxian Zhang, Jiaxing Xie, Shiyue Li, Rongchang Chen, Shihui Yu, Nanshan Zhong

published 19 Dec 2019

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Molecular characterization of lung adenocarcinoma from Korean patients using next generation sequencing

You Jin Chun, Jae Woo Choi, Min Hee Hong, Dongmin Jung, Hyeonju Son, Eun Kyung Cho, Young Joo Min, Sang-We Kim, Keunchil Park, Sung Sook Lee, Sangwoo Kim, Hye Ryun Kim, Byoung Chul Cho, Korean Lung Cancer Consortium (KLCC)

published 25 Nov 2019

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Illuminating biological pathways for drug targeting in head and neck squamous cell carcinoma

Gabrielle Choonoo, Aurora S. Blucher, Samuel Higgins, Mitzi Boardman, Sophia Jeng, Christina Zheng, James Jacobs, Ashley Anderson, Steven Chamberlin, Nathaniel Evans, Myles Vigoda, Benjamin Cordier, Jeffrey W. Tyner, Molly Kulesz-Martin, Shannon K. McWeeney, Ted Laderas

published 09 Oct 2019

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Computational tools to detect signatures of mutational processes in DNA from tumours: A review and empirical comparison of performance

Hanane Omichessan, Gianluca Severi, Vittorio Perduca

published 12 Sep 2019

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TP53 codon 72 polymorphism is associated with FGFR3 and RAS mutation in non-muscle-invasive bladder cancer

Takashi Kawahara, Takahiro Kojima, Shuya Kandori, Masahiro Kurobe, Takayuki Yoshino, Tomokazu Kimura, Yoshiyuki Nagumo, Ryutaro Ishituka, Koji Mitsuzuka, Shintaro Narita, Takashi Kobayashi, Yoshiyuki Matsui, Osamu Ogawa, Mikio Sugimoto, Jun Miyazaki, Hiroyuki Nishiyama

published 01 Aug 2019

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Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy

Borahm Kim, Dongju Won, Seung-Tae Lee, Jong Rak Choi

published 26 Jun 2019

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Analysis of mutational dynamics at the DMPK (CTG)_n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1

Eyleen Corrales, Melissa Vásquez, Baili Zhang, Carolina Santamaría-Ulloa, Patricia Cuenca, Ralf Krahe, Darren G. Monckton, Fernando Morales

published 02 May 2019

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Somatic mutations render human exome and pathogen DNA more similar

Ehsan Ebrahimzadeh, Maggie Engler, David Tse, Razvan Cristescu, Aslan Tchamkerten

published 01 May 2019

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Mutational landscape of canine B-cell lymphoma profiled at single nucleotide resolution by RNA-seq

Diana Giannuzzi, Laura Marconato, Luciano Cascione, Stefano Comazzi, Ramy Elgendy, Sara Pegolo, Alessio Cecchinato, Francesco Bertoni, Luca Aresu, Serena Ferraresso

published 24 Apr 2019

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The combined survival effect of codon 72 polymorphisms and p53 somatic mutations in breast cancer depends on race and molecular subtype

Shantel Hebert-Magee, Han Yu, Michael Behring, Trafina Jadhav, Chandrakumar Shanmugam, Andra Frost, Isam-Eldin Eltoum, Sooryanarayana Varambally, Upender Manne

published 07 Feb 2019

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A sequential Monte Carlo algorithm for inference of subclonal structure in cancer

Oyetunji E. Ogundijo, Kaiyi Zhu, Xiaodong Wang, Dimitris Anastassiou

published 25 Jan 2019

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Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study

Magali Olivier, Liacine Bouaoun, Stephanie Villar, Alexis Robitaille, Vincent Cahais, Adriana Heguy, Graham Byrnes, Florence Le Calvez-Kelm, Gabriela Torres-Mejía, Isabel Alvarado-Cabrero, Fazlollah Shahram Imani-Razavi, Gloria Inés Sánchez, Roberto Jaramillo, Carolina Porras, Ana Cecilia Rodriguez, Maria Luisa Garmendia, José Luis Soto, Isabelle Romieu, Peggy Porter, Jamie Guenthoer, Sabina Rinaldi, on behalf of the PRECAMA team

published 17 Jan 2019

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