A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock

Carcinome hépatocellulaire et tamoxifène (à partir d'un cas clinique)

DIJON-BU Médecine Pharmacie (212312103) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Evaluation comportementale des MEMS RF dans un environnement mécanique hostile.

Session Orale : 7

High-Power and Compact S-Band RF-MEMS Phase Shifters

International audienc

High-Power and Compact S-Band RF-MEMS Phase Shifters

International audienc

National comparison of radar cross section measurements: Motivations and scheduled tasks

International audienceA national comparison of RCS measurement results between national measurement laboratories has been organized in the framework of a French Working Group (Groupe de Travail incertitudes: GTi), dealing with measurement uncertainties in anechoic chamber. This Working Group involves 22 laboratories that are either industrial or academic research ones, or laboratories depending on governmental organisms. Three tasks have been defined: 1/ State of the art, 2/ Comparisons of RCS measurements, 3/ Comparisons of Antenna Measurements. This paper deals with the second task, in which 8 laboratories are engaged. The motivations and the scheduled tasks are described