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Next-generation sequencing

Quantitative PCR provides a simple and accessible method for quantitative microbiota profiling

Ching Jian, Panu Luukkonen, Hannele Yki-Järvinen, Anne Salonen, Katri Korpela

published 15 Jan 2020

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Clinical feasibility of NGS liquid biopsy analysis in NSCLC patients

Eirini Papadopoulou, Nikolaos Tsoulos, Katerina Tsantikidi, Vasiliki Metaxa-Mariatou, Pinelopi Eleftheria Stamou, Athina Kladi-Skandali, Evgenia Kapeni, Georgios Tsaousis, George Pentheroudakis, Dimitrios Petrakis, Dimitra Ioanna Lampropoulou, Gerasimos Aravantinos, Ioannis Varthalitis, George Kesisis, Ioannis Boukovinas, Pavlos Papakotoulas, Nikolaos Katirtzoglou, Elias Athanasiadis, Flora Stavridi, Christos Christodoulou, Anna Koumarianou, Yeşim Eralp, George Nasioulas

published 20 Dec 2019

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SparkGA2: Production-quality memory-efficient Apache Spark based genome analysis framework

Hamid Mushtaq, Nauman Ahmed, Zaid Al-Ars

published 05 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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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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