Trio RNA sequencing in a cohort of medically complex children

In this study we applied a trio RNA sequencing approach in a cohort of children with medical complexity who previously underwent genome sequencing. We find that trio analysis, while sometimes helpful in ruling out false-positive RNA-level aberrations, did not increase the diagnostic yield beyond singleton analysis.

Source: The American Journal of Human Genetics - March 28, 2023 Category: Genetics & Stem Cells Authors: Ashish R. Deshwar, Kyoko E. Yuki, Huayun Hou, Yijing Liang, Tayyaba Khan, Alper Celik, Arun Ramani, Roberto Mendoza-Londono, Christian R. Marshall, Michael Brudno, Adam Shlien, M. Stephen Meyn, Robin Z. Hayeems, Brandon J. McKinlay, Panagiota Klentrou, Mi Tags: Report Source Type: research