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Mutation detection

The association of EGFR amplification with aberrant exon 20 insertion report using the cobas EGFR Mutation Test v2

Man-San Zhang, Yi-Chen Yeh, [ ... ], Min-Shu Hsieh

Immunological and molecular assessment of HIV-1 mutations for antiretroviral drug resistance in Saudi Arabia

Mai M. El-Daly, Kawther A. Zaher, [ ... ], Esam I. Azhar

Dissemination of local sub-variants of SARS-CoV-2 detected by detailed mutation analysis in wastewater-based epidemiology

Ryo Honda, Takashi Abe, [ ... ], Masanori Arita

G6PD deficiency in Malaysia’s Proto-Malay Orang Asli indigenous population: A molecular and epidemiological study

Mohamed Afiq Hidayat Zailani, Raja Zahratul Azma Raja Sabudin, [ ... ], Ainoon Othman

Analytical validation of a hybrid-approach combining tumor-informed and tumor-agnostic bespoke ctDNA panel assay for the sensitive detection of minimal residual disease

Sunghoon Heo, Seon-Kyu Ham, [ ... ], Tae-You Kim

Study of the parent-of-origin effect in monogenic diseases with variable age of onset. Application on ATTRv

Flora Alarcon, Violaine Planté-Bordeneuve, Grégory Nuel

Interferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease

Daniel R. Ambruso, Natalie J. Briones, [ ... ], Kenneth L. Jones

Comprehensive methodology for sample enrichment in EEG biomarker studies for Alzheimer’s risk classification

Verónica Henao Isaza, David Aguillon, [ ... ], John Fredy Ochoa-Gómez

stilPCR increases the effective sequencing length of Illumina targeted next-generation sequencing

Jason D. Limberis, Roland J. Nagel, [ ... ], John Z. Metcalfe

Association analysis of Mycoplasma pneumoniae 23S rRNA gene mutation with refractory Mycoplasma pneumoniae pneumonia in children

Wen Li, Wei Gao, [ ... ], Aimin Li

Integrating genomic epidemiology and deep mutational scanning data for prevalence forecasting of SARS-CoV-2 Omicron lineages

Zhong-yi Lei, Xiao-min Zhang, [ ... ], Ming Ni

SARS-COV-2 mutations in North Rift, Kenya

Elius Mbogori, Kelvin Thiongo, [ ... ], Elijah Songok

Genetic variations and clinical implications of B-thalassemia in Iraqi population

Ayman Ziadoon Jawad, Meryam Chelly, Salah Hashim AL-Zuhairy, Hanen Bouaziz

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