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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, [ ... ], Laia Pedrola

Workload measurement for molecular genetics laboratory: A survey study

Enrico Tagliafico, Isabella Bernardis, [ ... ], on behalf of the Molecular Genetics Working Group of the Italian Society of Human Genetics, SIGU

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

Jitka Koblihova, Klara Srutova, [ ... ], Katerina Machova Polakova

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

You Tang, Min Li, [ ... ], Ping Zheng

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, [ ... ], María C. Arufe

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

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, [ ... ], Juergen Geist

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, [ ... ], Andre Marziali

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

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

Nina Makretskaya, Olga Bezlepkina, [ ... ], Anatoly Tiulpakov

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

Ramona H. Krauss, Belinda Phipson, [ ... ], Salvatore Pepe

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, [ ... ], Douglas E. Williamson

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

Alberto Liñán, Barbara Lawrenz, [ ... ], Human M. Fatemi

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