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Gene sequencing

BH₄-deficient hyperphenylalaninemia in Russia

Polina Gundorova, Irina A. Kuznetcova, [ ... ], Aleksander V. Polyakov

High mutation burden in the checkpoint and micro-RNA processing genes in myelodysplastic syndrome

Ivan Sergeevich Moiseev, Nikolay Yurevich Tcvetkov, [ ... ], Elena Vladislavovna Morozova

Clinical benefit for clinical sequencing using cancer panel testing

Sadaaki Nishimura, Atsushi Sugimoto, [ ... ], Masakazu Yashiro

Challenges in microbiological identification of aerobic bacteria isolated from the skin of reptiles

Maria Brockmann, Heike Aupperle-Lellbach, [ ... ], Michael Pees

Meta-analysis of whole-exome sequencing data from two independent cohorts finds no evidence for rare variant enrichment in Parkinson disease associated loci

Johannes Jernqvist Gaare, Gonzalo Nido, [ ... ], Charalampos Tzoulis

A comparative study of single nucleotide variant detection performance using three massively parallel sequencing methods

Linea Christine Trudsø, Jeppe Dyrberg Andersen, [ ... ], Niels Morling

Evaluation of the GenoType NTM-DR assay performance for the identification and molecular detection of antibiotic resistance in Mycobacterium abscessus complex

Nicolas Bouzinbi, Olivier Marcy, [ ... ], Sylvain Godreuil

An approach to increase the success rate of cultivation of soil bacteria based on fluorescence-activated cell sorting

Laura Espina

Identification of French Guiana anopheline mosquitoes by MALDI-TOF MS profiling using protein signatures from two body parts

Sébastien Briolant, Monique Melo Costa, [ ... ], Lionel Almeras

Exon sequencing mutation detection algorithm based on PCR matching

Guobin Chen, Xianzhong Xie

Rapid genotyping protocol to improve dengue virus serotype 2 survey in Lao PDR

Elodie Calvez, Somphavanh Somlor, [ ... ], Marc Grandadam

Dissecting efficiency of a 5’ rapid amplification of cDNA ends (5’-RACE) approach for profiling T-cell receptor beta repertoire

Yu-Hung Lin, Sheng-Jou Hung, [ ... ], Tsunglin Liu

Performance of a multiplexed amplicon-based next-generation sequencing assay for HLA typing

Chang Liu, Brian F. Duffy, [ ... ], Bijal A. Parikh

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