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Next-generation sequencing

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, [ ... ], Suradej Hongeng

Ion torrent high throughput mitochondrial genome sequencing (HTMGS)

N. R. Harvey, C. L. Albury, [ ... ], L. R. Griffiths

LFastqC: A lossless non-reference-based FASTQ compressor

Sultan Al Yami, Chun-Hsi Huang

Heteroplasmy in the complete chicken mitochondrial genome

Yanqun Huang, Weiwei Lu, [ ... ], Wen Chen

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, [ ... ], Jeremy P. Segal

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

Leolin Katsidzira, Anna Vorster, [ ... ], Raj Ramesar

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

Edoardo Morandi, Matteo Cereda, [ ... ], Salvatore Oliviero

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

Aline Etelvina Casaril, Diego Peres Alonso, [ ... ], Alessandra Gutierrez de Oliveira

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

Davide Gentilini, Antonino Oliveri, [ ... ], Anna Maria Di Blasio

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

Izumi Yamaguchi, Takashi Watanabe, Osamu Ohara, Yoshinori Hasegawa

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

Young-Ho Kim, Yura Song, [ ... ], Kyeong-Man Hong

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

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, [ ... ], Emiko Sakaida

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