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Dideoxy DNA sequencing

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

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

National Prociency Testing Result of CYP2D610* Genotyping for Adjuvant Tamoxifen Therapy in China

Guigao Lin, Kuo Zhang, [ ... ], Jinming Li

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Zhao Chen, Wei Ye, [ ... ], Hong Jiang

Next-Generation Sequencing Techniques Reveal that Genomic Imprinting Is Absent in Day-Old Gallus gallus domesticus Brains

Qiong Wang, Kaiyang Li, [ ... ], Lujiang Qu

SIV Genome-Wide Pyrosequencing Provides a Comprehensive and Unbiased View of Variation within and outside CD8 T Lymphocyte Epitopes

Austin L. Hughes, Ericka A. Becker, [ ... ], Shelby L. O’Connor

Investigating CRISPR/Cas9 gene drive for production of disease-preventing prion gene alleles

Andrew R. Castle, Serene Wohlgemuth, Luis Arce, David Westaway

Development of a one-step reverse transcription-quantitative polymerase chain reaction assay for the detection of porcine reproductive and respiratory syndrome virus

Hansong Chae, Hyun Soo Roh, [ ... ], Jung Won Kang

DNAH11 compound heterozygous variants cause heterotaxy and congenital heart disease

Hong Xia, Xiangjun Huang, [ ... ], Hao Deng

Development of an optimized protocol for generating knockout cancer cell lines using the CRISPR/Cas9 system, with emphasis on transient transfection

Seyed Alireza Mousavi Kahaki, Nayereh Ebrahimzadeh, Hossein Fahimi, Arfa Moshiri

Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC

A. Mesut Erzurumluoglu, Muslim M. Alsaadi, [ ... ], Ian N. M. Day

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

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, [ ... ], Rafał Płoski

A 1.6-Mb Microdeletion in Chromosome 17q22 Leads to NOG-Related Symphalangism Spectrum Disorder without Intellectual Disability

Xiuhong Pang, Huajie Luo, [ ... ], Tao Yang

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