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Next-generation sequencing

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Sarah Moreau-Le Lan, Elena Aller, Ines Calabria, Lola Gonzalez-Tarancon, Cristina Cardona-Gay, Marina Martinez-Matilla, Maria J. Aparisi, Jorge Selles, Lydia Sagath, Inmaculada Pitarch, Nuria Muelas, Jose V. Cervera, Jose M. Millan, Laia Pedrola

published 05 Dec 2018

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Workload measurement for molecular genetics laboratory: A survey study

Enrico Tagliafico, Isabella Bernardis, Marina Grasso, Maria Rosaria D’Apice, Cristina Lapucci, Annalisa Botta, Daniela Francesca Giachino, Maria Marinelli, Paola Primignani, Silvia Russo, Ilaria Sani, Manuela Seia, Sergio Fini, Paola Rimessi, Elena Tenedini, Anna Ravani, Maurizio Genuardi, Alessandra Ferlini, on behalf of the Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

published 27 Nov 2018

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AFLP-AFLP in silico-NGS approach reveals polymorphisms in repetitive elements in the malignant genome

Jitka Koblihova, Klara Srutova, Monika Krutska, Hana Klamova, Katerina Machova Polakova

published 08 Nov 2018

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TRCMGene: A two-step referential compression method for the efficient storage of genetic data

You Tang, Min Li, Jing Sun, Tao Zhang, Jicheng Zhang, Ping Zheng

published 05 Nov 2018

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Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging

Jesús Mateos, Juan Fafián-Labora, Miriam Morente-López, Iván Lesende-Rodriguez, Lorenzo Monserrat, María A. Ódena, Eliandre de Oliveira, Javier de Toro, María C. Arufe

published 31 Oct 2018

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Cost-effectiveness of ALK testing and first-line crizotinib therapy for non-small-cell lung cancer in China

Shun Lu, Yongfeng Yu, Shijun Fu, Hongye Ren

published 23 Oct 2018

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Identification of a piscine reovirus-related pathogen in proliferative darkening syndrome (PDS) infected brown trout (Salmo trutta fario) using a next-generation technology detection pipeline

Ralph Kuehn, Bernhard C. Stoeckle, Marc Young, Lisa Popp, Jens-Eike Taeubert, Michael W. Pfaffl, Juergen Geist

published 22 Oct 2018

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Duplex Proximity Sequencing (Pro-Seq): A method to improve DNA sequencing accuracy without the cost of molecular barcoding redundancy

Joel Pel, Wendy W. Y. Choi, Amy Leung, Gosuke Shibahara, Laura Gelinas, Milenko Despotovic, W. Lloyd Ung, Andre Marziali

published 02 Oct 2018

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Positive selection in coding regions and motif duplication in regulatory regions of bottlenose dolphin MHC class II genes

Heidi J. T. Pagán, Tatiana Ferrer, Greg O’Corry-Crowe

published 25 Sep 2018

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High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism

Nina Makretskaya, Olga Bezlepkina, Anna Kolodkina, Alexey Kiyaev, Evgeny V. Vasilyev, Vasily Petrov, Svetlana Kalinenkova, Oleg Malievsky, Ivan I. Dedov, Anatoly Tiulpakov

published 21 Sep 2018

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Shifts in ovine cardiopulmonary microRNA expression in late gestation and the perinatal period

Ramona H. Krauss, Belinda Phipson, Alicia Oshlack, Nikita Prasad-Gupta, Michael M. Cheung, Joseph J. Smolich, Salvatore Pepe

published 19 Sep 2018

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Comparative evaluation of a new magnetic bead-based DNA extraction method from fecal samples for downstream next-generation 16S rRNA gene sequencing

Kara D. McGaughey, Tulay Yilmaz-Swenson, Nourhan M. Elsayed, Dianne A. Cruz, Ramona R. Rodriguez, Michael D. Kritzer, Angel V. Peterchev, Megan Gray, Samantha R. Lewis, Jeffrey Roach, William C. Wetsel, Douglas E. Williamson

published 23 Aug 2018

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Clinical reassessment of human embryo ploidy status between cleavage and blastocyst stage by Next Generation Sequencing

Alberto Liñán, Barbara Lawrenz, Ibrahim El Khatib, Asina Bayram, Ana Arnanz, Carmen Rubio, Rupali Chopra, Human M. Fatemi

published 22 Aug 2018

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