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Dideoxy DNA sequencing

Whole exome sequencing identifies KIF26B, LIFR and LAMC1 mutations in familial vesicoureteral reflux

Zsuzsa I. Bartik, Ulla Sillén, [ ... ], Susanne Fransson

Assessment of minority frequency pretreatment HIV drug-resistant variants in pregnant women and associations with virologic non-suppression at term

Ceejay L. Boyce, Ingrid A. Beck, [ ... ], Lisa M. Frenkel

Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2

Nandana D. Rao, Brian H. Shirts

Clinical and analytical validation of an 82-gene comprehensive genome-profiling panel for identifying and interpreting variants responsible for inherited retinal dystrophies

Jacqueline Chan, Jolyon Holdstock, [ ... ], Akiko Maeda

Phenotypic and molecular characterization of the largest worldwide cluster of hereditary angioedema type 1

Juan Sebastian Arias-Flórez, Sandra Ximena Ramirez, [ ... ], Carlos M. Restrepo

Prevalence and spectrum of germline BRCA1 and BRCA2 mutations in multiethnic cohort of breast cancer patients in Brunei Darussalam

Siti Nur Idayu Matusin, Nuramalina Mumin, [ ... ], Mas Rina Wati Haji Abdul Hamid

Evaluation of the Xpert MTB/XDR test for detection of isoniazid, fluoroquinolones, and second-line injectable drugs resistance to Mycobacterium tuberculosis—Anhui Province, China

Ruiqing Zhang, Xundi Bao, [ ... ], Yanlin Zhao

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

Rapidly obtaining genome sequence of Severe Fever with Thrombocytopenia Syndrome virus directly from clinical serum specimen using long amplicon based nanopore sequencing workflow

Tingting Tian, Yanhan Wen, [ ... ], Mifang Liang

Passage of human-origin influenza A virus in swine tracheal epithelial cells selects for adaptive mutations in the hemagglutinin gene

Jongsuk Mo, Lucas M. Ferreri, [ ... ], Daniela S. Rajao

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