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Next-generation sequencing

Heteroplasmy in the complete chicken mitochondrial genome

Yanqun Huang, Weiwei Lu, Jiefei Ji, Xiangli Zhang, Pengfei Zhang, Wen Chen

published 08 Nov 2019

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Measurable residual disease monitoring for patients with acute myeloid leukemia following hematopoietic cell transplantation using error corrected hybrid capture next generation sequencing

Vidya Balagopal, Andrew Hantel, Sabah Kadri, George Steinhardt, Chao Jie Zhen, Wenjun Kang, Pankhuri Wanjari, Lauren L. Ritterhouse, Wendy Stock, Jeremy P. Segal

published 28 Oct 2019

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Investigation on the hereditary basis of colorectal cancers in an African population with frequent early onset cases

Leolin Katsidzira, Anna Vorster, Innocent T. Gangaidzo, Rudo Makunike-Mutasa, Dhiren Govender, Simbarashe Rusakaniko, Sandie Thomson, Jonathan A. Matenga, Raj Ramesar

published 24 Oct 2019

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HaTSPiL: A modular pipeline for high-throughput sequencing data analysis

Edoardo Morandi, Matteo Cereda, Danny Incarnato, Caterina Parlato, Giulia Basile, Francesca Anselmi, Andrea Lauria, Lisa Marie Simon, Isabelle Laurence Polignano, Francesca Arruga, Silvia Deaglio, Elisa Tirtei, Franca Fagioli, Salvatore Oliviero

published 15 Oct 2019

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Macrogeographic genetic structure of Lutzomyia longipalpis complex populations using Next Generation Sequencing

Aline Etelvina Casaril, Diego Peres Alonso, Karina Garcia Franco, Marcus Vinicius Niz Alvarez, Suellem Petilim Gomes Barrios, Wagner de Souza Fernandes, Jucelei de Oliveira Moura Infran, Ana Caroline Moura Rodrigues, Paulo Eduardo Martins Ribolla, Alessandra Gutierrez de Oliveira

published 03 Oct 2019

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NGS analysis in Marfan syndrome spectrum: Combination of rare and common genetic variants to improve genotype-phenotype correlation analysis

Davide Gentilini, Antonino Oliveri, Teresa Fazia, Alessandro Pini, Susan Marelli, Luisa Bernardinelli, Anna Maria Di Blasio

published 19 Sep 2019

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PCR-free whole exome sequencing: Cost-effective and efficient in detecting rare mutations

Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa

published 13 Sep 2019

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False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases

Young-Ho Kim, Yura Song, Jong-Kwang Kim, Tae-Min Kim, Hye Won Sim, Hyung-Lae Kim, Hyonchol Jang, Young-Woo Kim, Kyeong-Man Hong

published 12 Sep 2019

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Quantitative detection of ALK fusion breakpoints in plasma cell-free DNA from patients with non-small cell lung cancer using PCR-based target sequencing with a tiling primer set and two-step mapping/alignment

Kei Kunimasa, Kikuya Kato, Fumio Imamura, Yoji Kukita

published 12 Sep 2019

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Detection of MYD88 L265P mutation by next-generation deep sequencing in peripheral blood mononuclear cells of Waldenström’s macroglobulinemia and IgM monoclonal gammopathy of undetermined significance

Ayako Nakamura, Chikako Ohwada, Masahiro Takeuchi, Yusuke Takeda, Shokichi Tsukamoto, Naoya Mimura, Oshima-Hasegawa Nagisa, Yasumasa Sugita, Hiroaki Tanaka, Hisashi Wakita, Nobuyuki Aotsuka, Kosei Matsue, Koutaro Yokote, Osamu Ohara, Chiaki Nakaseko, Emiko Sakaida

published 04 Sep 2019

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Bayesian hierarchical negative binomial models for multivariable analyses with applications to human microbiome count data

Amanda H. Pendegraft, Boyi Guo, Nengjun Yi

published 22 Aug 2019

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A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk

Madison R. Bishop, Anna L. W. Huskey, John Hetzel, Nancy D. Merner

published 15 Aug 2019

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Improvement in detecting cytomegalovirus drug resistance mutations in solid organ transplant recipients with suspected resistance using next generation sequencing

Rubén López-Aladid, Alba Guiu, Maria Mar Mosquera, Francisco López-Medrano, Frederic Cofán, Laura Linares, Julián Torre-Cisneros, Elisa Vidal, Asunción Moreno, Jose María Aguado, Elisa Cordero, Cecilia Martin-Gandul, Jordi Carratalá, Nuria Sabé, Jordi Niubó, Carlos Cervera, Alicia Capón, Anna Cervilla, Marta Santos, Marta Bodro, Patricia Muñoz, Maria Carmen Fariñas, Andrés Antón, Maitane Aranzamendi, Miguel Montejo, Pilar Pérez-Romero, Oscar Len, Maria Ángeles Marcos

published 18 Jul 2019

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