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Mutation detection

CRISPR-Cas9-guided amplification-free genomic diagnosis for familial hypercholesterolemia using nanopore sequencing

Sijia Xu, Hiroki Shiomi, [ ... ], Koh Ono

A novel method for the isolation of single cells mimicking circulating tumour cells adhered on Smart Bio Surface slides by Laser Capture Microdissection

Grazia Visci, Doron Tolomeo, [ ... ], Clelia Tiziana Storlazzi

Differential laboratory passaging of SARS-CoV-2 viral stocks impacts the in vitro assessment of neutralizing antibodies

Aram Avila-Herrera, Jeffrey A. Kimbrel, [ ... ], Monica K. Borucki

Genetic profiling of rat gliomas and cardiac schwannomas from life-time radiofrequency radiation exposure study using a targeted next-generation sequencing gene panel

Ashley M. Brooks, Andrea Vornoli, [ ... ], Arun R. Pandiri

Monitoring SARS-CoV-2 genetic variability: A post-market surveillance workflow for combined bioinformatic and laboratory evaluation of commercial RT-PCR assay performance

Barbara Kosińska-Selbi, Justyna Kowalczyk, [ ... ], Anna Blacha

Performance of the cobas EZH2 mutation test on clinical samples from non-Hodgkin lymphoma patients

Johnny Y. Shyu, Peter A. Schlag, [ ... ], Guili Zhang

A precision overview of genomic resistance screening in Ecuadorian isolates of Mycobacterium tuberculosis using web-based bioinformatics tools

Gabriel Morey-León, Paulina M. Mejía-Ponce, [ ... ], Luisa Berná

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Kamonwan Chamchoy, Sirapapha Sudsumrit, [ ... ], Usa Boonyuen

Antimicrobial drug resistant features of Mycobacterium tuberculosis associated with treatment failure

Fizza Mushtaq, Syed Mohsin Raza, [ ... ], Irfan Ahmad

Rapid extraction-free detection of the R132H isocitrate dehydrogenase mutation in glioma using colorimetric peptide nucleic acid-loop mediated isothermal amplification (CPNA-LAMP)

Kristian A. Choate, Edward J. Raack, [ ... ], Paul B. Mann

A novel rapid detection method for a single-nucleotide substitution mutation derived from canine urothelial and prostatic carcinoma cells present in small amounts in urine sediments

Shiro Okumura, Yoshiharu Ohsato

Mutations in microRNA-128-2-3p identified with amplification-free hybridization assay

Sofie Slott, Cecilie Schiøth Krüger-Jensen, [ ... ], Kira Astakhova

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

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