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Mutation detection

Role of multimeric analysis of von Willebrand factor (VWF) in von Willebrand disease (VWD) diagnosis: Lessons from the PCM-EVW-ES Spanish project

Almudena Pérez-Rodríguez, Javier Batlle, [ ... ], María Fernanda López-Fernández

Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues

Nunthawut Chat-Uthai, Pichpisith Vejvisithsakul, [ ... ], Naravat Poungvarin

Evaluation of different analysis pipelines for the detection of HIV-1 minority resistant variants

Marine Perrier, Nathalie Désiré, [ ... ], Charlotte Charpentier

Prevalence and patterns of rifampicin and isoniazid resistance conferring mutations in Mycobacterium tuberculosis isolates from Uganda

Edgar Kigozi, George W. Kasule, [ ... ], David Patrick Kateete

Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na⁺ channel blocking pharmacotherapy for de novo conduction disease

Jie Liu, Jason D. Bayer, [ ... ], Vijay S. Chauhan

Cancer driver mutation prediction through Bayesian integration of multi-omic data

Zixing Wang, Kwok-Shing Ng, [ ... ], Ken Chen

Can chimerism explain breast/ovarian cancers in BRCA non-carriers from BRCA-positive families?

Rachel Mitchell, Lela Buckingham, [ ... ], Lydia Usha

Systematic evaluation of a targeted gene capture sequencing panel for molecular diagnosis of retinitis pigmentosa

Hui Huang, Yanhua Chen, [ ... ], Xin Yi

Xome-Blender: A novel cancer genome simulator

Roberto Semeraro, Valerio Orlandini, Alberto Magi

Novel putative drivers revealed by targeted exome sequencing of advanced solid tumors

Antonio Pannuti, Aleksandra Filipovic, [ ... ], Lucio Miele

Development of a highly sensitive liquid biopsy platform to detect clinically-relevant cancer mutations at low allele fractions in cell-free DNA

Davina Gale, Andrew R. J. Lawson, [ ... ], Nitzan Rosenfeld

Analytical validation of a next generation sequencing liquid biopsy assay for high sensitivity broad molecular profiling

Vincent Plagnol, Samuel Woodhouse, [ ... ], Tim Forshew

WFS1 mutation screening in a large series of Japanese hearing loss patients: Massively parallel DNA sequencing-based analysis

Masafumi Kobayashi, Maiko Miyagawa, [ ... ], Shin-ichi Usami

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