Hommage à Éric Seydoux

Éric Seydoux et la Bibliothèque nationale Marie-Cécile Miessner Éric Seydoux nous a quittés en juillet 2013, la revue des Nouvelles de l’Estampe, pour rendre hommage au maître imprimeur, a rassemblé un certain nombre de témoignages d’artistes et de gens du métier, imprimeurs et éditeurs. L’Atelier, dirigé par Éric Seydoux, apparait dans le « Répertoire des ateliers de sérigraphie d’art en France » dans les Nouvelles de l’Estampe (n° 72) en 1983. Les premiers contacts du département avec Éric..

Multi-Institutional FASTQ File Exchange as a Means of Proficiency Testing for Next-Generation Sequencing Bioinformatics and Variant Interpretation

Next-generation sequencing is becoming increasingly common in clinical laboratories worldwide and is revolutionizing clinical molecular testing. However, the large amounts of raw data produced by next-generation sequencing assays and the need for complex bioinformatics analyses present unique challenges. Proficiency testing in clinical laboratories has traditionally been designed to evaluate assays in their entirety; however, it can be alternatively applied to separate assay components. We developed and implemented a multi-institutional proficiency testing approach to directly assess custom bioinformatics and variant interpretation processes. Six clinical laboratories, all of which use the same commercial library preparation kit for next-generation sequencing analysis of tumor specimens, each submitted raw data (FASTQ files) from four samples. These 24 file sets were then deidentified and redistributed to five of the institutions for analysis and interpretation according to their clinically validated approach. Among the laboratories, there was a high rate of concordance in the calling of single-nucleotide variants, in particular those we considered clinically significant (100% concordance). However, there was significant discordance in the calling of clinically significant insertions/deletions, with only two of seven being called by all participating laboratories. Missed calls were addressed by each laboratory to improve their bioinformatics processes. Thus, through our alternative proficiency testing approach, we identified the bioinformatic detection of insertions/deletions as an area of particular concern for clinical laboratories performing next-generation sequencing testing