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Next-generation sequencing

Development and Validation of a Next-Generation Sequencing Assay for BRCA1 and BRCA2 Variants for the Clinical Laboratory

Charles M. Strom, Steven Rivera, [ ... ], Weimin Sun

Detection and Tracking of NY-ESO-1-Specific CD8⁺ T Cells by High-Throughput T Cell Receptor β (TCRB) Gene Rearrangements Sequencing in a Peptide-Vaccinated Patient

Manami Miyai, Shingo Eikawa, [ ... ], Kazuhiro Kakimi

CNV-CH: A Convex Hull Based Segmentation Approach to Detect Copy Number Variations (CNV) Using Next-Generation Sequencing Data

Rituparna Sinha, Sandip Samaddar, Rajat K. De

Development of Genomic Microsatellite Markers in Carthamus tinctorius L. (Safflower) Using Next Generation Sequencing and Assessment of Their Cross-Species Transferability and Utility for Diversity Analysis

Heena Ambreen, Shivendra Kumar, [ ... ], Shailendra Goel

Next Generation Sequencing Analysis Reveals Segmental Patterns of microRNA Expression in Mouse Epididymal Epithelial Cells

Brett Nixon, Simone J. Stanger, [ ... ], Eileen A. McLaughlin

Efficient Estimation of Mutation Rates during Individual Development by Minimization of Chi-Square

Shi-Meng Ai, Jian-Jun Gao, Shu-Qun Liu, Yun-Xin Fu

Validation of Next-Generation Sequencing of Entire Mitochondrial Genomes and the Diversity of Mitochondrial DNA Mutations in Oral Squamous Cell Carcinoma

Anita Kloss-Brandstätter, Hansi Weissensteiner, [ ... ], Frank R. Kloss

Bisulfite Conversion of DNA: Performance Comparison of Different Kits and Methylation Quantitation of Epigenetic Biomarkers that Have the Potential to Be Used in Non-Invasive Prenatal Testing

Chrysanthia A. Leontiou, Michael D. Hadjidaniel, [ ... ], Philippos C. Patsalis

Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma

Joakim Crona, Viktor Ljungström, [ ... ], Peyman Björklund

Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome

Catarina Allegue, Mònica Coll, [ ... ], Ramon Brugada

Robustness of Next Generation Sequencing on Older Formalin-Fixed Paraffin-Embedded Tissue

Danielle Mercatante Carrick, Michele G. Mehaffey, [ ... ], Sheri D. Schully

Genetic Variants Associated with Port-Wine Stains

Alice Frigerio, Karol Wright, [ ... ], Pinar Bayrak-Toydemir

Indexing Arbitrary-Length k-Mers in Sequencing Reads

Tomasz Kowalski, Szymon Grabowski, Sebastian Deorowicz

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