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Dideoxy DNA sequencing

Exome Sequencing Identifies a Novel Gene, WNK1, for Susceptibility to Pelvic Organ Prolapse (POP)

Shuquan Rao, Jinghe Lang, Lan Zhu, Juan Chen

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

Tobias Eisenberger, Christian Decker, [ ... ], Carsten Bergmann

Novel Exons and Splice Variants in the Human Antibody Heavy Chain Identified by Single Cell and Single Molecule Sequencing

Christopher Vollmers, Lolita Penland, Jad N. Kanbar, Stephen R. Quake

Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome

Jiang Lin, Jing Yang, [ ... ], Jun Qian

Identification of Two Missense Mutations of ERCC6 in Three Chinese Sisters with Cockayne Syndrome by Whole Exome Sequencing

Shanshan Yu, Liyuan Chen, [ ... ], Jiansheng Xie

The Accuracy, Feasibility and Challenges of Sequencing Short Tandem Repeats Using Next-Generation Sequencing Platforms

Monika Zavodna, Andrew Bagshaw, Rudiger Brauning, Neil J. Gemmell

Exome Sequencing Identifies Three Novel Candidate Genes Implicated in Intellectual Disability

Zehra Agha, Zafar Iqbal, [ ... ], Raheel Qamar

Whole-Genome Sequencing of the World’s Oldest People

Hinco J. Gierman, Kristen Fortney, [ ... ], Stuart K. Kim

A Bumpy Ride on the Diagnostic Bench of Massive Parallel Sequencing, the Case of the Mitochondrial Genome

Kim Vancampenhout, Ben Caljon, [ ... ], Sara Seneca

Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

Jie Qing, Denise Yan, [ ... ], Xue Zhong Liu

Systematic Production of Inactivating and Non-Inactivating Suppressor Mutations at the relA Locus That Compensate the Detrimental Effects of Complete spoT Loss and Affect Glycogen Content in Escherichia coli

Manuel Montero, Mehdi Rahimpour, [ ... ], Javier Pozueta-Romero

Platform Comparison for Evaluation of ALK Protein Immunohistochemical Expression, Genomic Copy Number and Hotspot Mutation Status in Neuroblastomas

Benedict Yan, Chik Hong Kuick, [ ... ], Kenneth T. E. Chang

Application of Multi-Objective Optimization to Pooled Experiments of Next Generation Sequencing for Detection of Rare Mutations

Julius Žilinskas, Algirdas Lančinskas, Mario Rosario Guarracino

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