Anniek Corveleyn

TL;DR: These guidelines for the evaluation and validation of next-generation sequencing (NGS) applications for the diagnosis of genetic disorders seem to be valuable for the harmonization and quality assurance of NGS diagnostics in Europe.

TL;DR: The principles of validation and verification in the context of clinical human molecular genetic testing are outlined, including implementation processes, types of tests and their key validation components, and some relevant statistical approaches that can be used by individual laboratories to ensure that tests are conducted to defined standards.

TL;DR: A novel genetic overlap between ALS and SCA2 is revealed and the phenotype of patients with ALS with expanded repeat sizes ranged from rapidly progressive typical ALS to slowly progressive ALS with reduced sensory nerve action potentials.

TL;DR: Structural analysis indicates that the 3 disease‐associated mutations at positions 206, 281, and 284 of the STING protein define a novel cluster of amino acids with functional importance in the regulation of type I interferon signaling.

TL;DR: It is shown that, as result of a t(12;17)(p13;q11), the transcription factor gene CIZ/NMP4 is recurrently involved in acute leukemia through fusion with either EWSR1 or TAF15, suggesting a contribution to oncogenesis that is independent of the transactivating properties of the fusion protein.