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Mutation detection

RMut: R package for a Boolean sensitivity analysis against various types of mutations

Hung-Cuong Trinh, Yung-Keun Kwon

Artemisinin resistance-associated markers in Plasmodium falciparum parasites from the China-Myanmar border: predicted structural stability of K13 propeller variants detected in a low-prevalence area

Yan He, Susana Campino, [ ... ], Taane G. Clark

Discoveries beyond BRCA1/2: Multigene testing in an Asian multi-ethnic cohort suspected of hereditary breast cancer syndrome in the real world

Samuel Guan Wei Ow, Pei Yi Ong, Soo-Chin Lee

Concentration of mitochondrial DNA mutations by cytoplasmic transfer from platelets to cultured mouse cells

Kaori Ishikawa, Kohei Kobayashi, [ ... ], Kazuto Nakada

Overcoming the pitfalls of automatic interpretation of whole genome sequencing data by online tools for the prediction of pyrazinamide resistance in Mycobacterium tuberculosis

Tomotada Iwamoto, Yoshiro Murase, [ ... ], Satoshi Mitarai

Integrated routine workflow using next-generation sequencing and a fully-automated platform for the detection of KRAS, NRAS and BRAF mutations in formalin-fixed paraffin embedded samples with poor DNA quality in patients with colorectal carcinoma

Claire Franczak, Ludovic Dubouis, [ ... ], Alexandre Harlé

Familial multifocal micronodular pneumocyte hyperplasia with a novel splicing mutation in TSC1: Three cases in one family

Tetsuaki Shoji, Satoshi Konno, [ ... ], Masaharu Nishimura

Mechanism and resistance for antimycobacterial activity of a fluoroquinophenoxazine compound

Pamela K. Garcia, Thirunavukkarasu Annamalai, [ ... ], Yuk-Ching Tse-Dinh

Presence, persistence and effects of pre-treatment HIV-1 drug resistance variants detected using next generation sequencing: A Retrospective longitudinal study from rural coastal Kenya

Amin S. Hassan, David F. Bibby, [ ... ], James A. Berkley

Molecular drug susceptibility testing and strain typing of tuberculosis by DNA hybridization

Hillary N. Wood, Tom Venken, [ ... ], Jef Hooyberghs

Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia

Polina Gundorova, Anna A. Stepanova, [ ... ], Aleksander V. Polyakov

Analysis of antifungal resistance genes in Candida albicans and Candida glabrata using next generation sequencing

Kathrin Spettel, Wolfgang Barousch, [ ... ], Birgit Willinger

First evaluation of the Next-Generation Sequencing platform for the detection of HIV-1 drug resistance mutations in Belgium

Géraldine Dessilly, Léonie Goeminne, [ ... ], Benoît Kabamba-Mukabi

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