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Mutation detection

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation

Uxia Esperón-Moldes, Manuel Ginarte-Val, [ ... ], Ana Vega

Usefulness of rapid on-site evaluation specimens from endoscopic ultrasound-guided fine-needle aspiration for cancer gene panel testing: A retrospective study

Tetsuya Ishizawa, Naohiko Makino, [ ... ], Yoshiyuki Ueno

Assessment of the clinical utility of four NGS panels in myeloid malignancies. Suggestions for NGS panel choice or design

Almudena Aguilera-Diaz, Iria Vazquez, [ ... ], María José Calasanz

Evaluation of KRAS, NRAS and BRAF mutations detection in plasma using an automated system for patients with metastatic colorectal cancer

Claire Franczak, Andréa Witz, [ ... ], Alexandre Harlé

Deep2Full: Evaluating strategies for selecting the minimal mutational experiments for optimal computational predictions of deep mutational scan outcomes

C. K. Sruthi, Meher Prakash

Estimating the basic reproduction number of a pathogen in a single host when only a single founder successfully infects

Vruj Patel, John L. Spouge

Somatic mutations in intracranial arteriovenous malformations

Jeremy A. Goss, August Y. Huang, [ ... ], Arin K. Greene

Genomic insights on heterogeneous resistance to vancomycin and teicoplanin in Methicillin-resistant Staphylococcus aureus: A first report from South India

Yamuna Devi Bakthavatchalam, Priyanka Babu, [ ... ], Balaji Veeraraghavan

KRAS and NRAS mutational gene profile of metastatic colorectal cancer patients in Jordan

Muhammad Awidi, Nidaa Ababneh, [ ... ], Abdalla Awidi

Clinical feasibility of NGS liquid biopsy analysis in NSCLC patients

Eirini Papadopoulou, Nikolaos Tsoulos, [ ... ], George Nasioulas

Mutation spectrums of TSC1 and TSC2 in Chinese women with lymphangioleiomyomatosis (LAM)

Jie Liu, Weiwei Zhao, [ ... ], Nanshan Zhong

Ultra-deep massively parallel sequencing with unique molecular identifier tagging achieves comparable performance to droplet digital PCR for detection and quantification of circulating tumor DNA from lung cancer patients

Le Son Tran, Hong-Anh Thi Pham, [ ... ], Hoai-Nghia Nguyen

Mutation analysis of annual sediment discharge at Wu Long station in Wu Jiang River Basin from 1960 to 2016

Peng Chen, Guangming Tan, [ ... ], Rouxin Tang

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