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Next-generation sequencing

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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Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

Chonthicha Satirapod, Matchuporn Sukprasert, Bhakbhoom Panthan, Angkana Charoenyingwattana, Pawares Chitayanan, Wasun Chantratita, Wicharn Choktanasiri, Objoon Trachoo, Suradej Hongeng

published 21 Nov 2019

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Ion torrent high throughput mitochondrial genome sequencing (HTMGS)

N. R. Harvey, C. L. Albury, S. Stuart, M. C. Benton, D. A. Eccles, J. R. Connell, H. G. Sutherland, R. J. N. Allcock, R. A. Lea, L. M. Haupt, L. R. Griffiths

published 15 Nov 2019

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LFastqC: A lossless non-reference-based FASTQ compressor

Sultan Al Yami, Chun-Hsi Huang

published 14 Nov 2019

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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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