Kristína Macáková

Keywords ultra-deep RNA sequencing clinical RNA sequencing deep sequencing Mendelian disorders sequencing depth Ultima Genomics minimum required sequencing depth clinically accessible tissues splicing variants variants of uncertain significance Get full text access Log in, subscribe or purchase for full access. References 1. Linderman, M.D. ∙ Brandt, T. ∙ Edelmann, L. ... Analytical validation of whole exome and whole genome sequencing for clinical applications BMC Med. Genomics. 2014; 7:20 2.

Keywords RNA-seq RNA sequencing transcriptome Mendelian disease molecular diagnostics genetic testing clinical validation expression splicing outlier analysis Get full text access Log in, subscribe or purchase for full access. References 1. Wojcik, M.H. ∙ Lemire, G. ∙ Berger, E. ... Genome Sequencing for Diagnosing Rare Diseases N. Engl. J. Med. 2024; 390:1985-1997 2. Turro, E. ∙ Astle, W.J. ∙ Megy, K. ... Whole-genome sequencing of patients with rare diseases in a national health system Nature.

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