Publications by authors named "Quentin Testard"
Dilated cardiomyopathy (DCM) is a rare disease in children and a leading cause of heart failure. There are numerous causes of DCM including genetic causes leading to isolated or syndromic presentations, with a wide variety of implicated genes. Among them, PPP1R13L is associated with a recessive syndrome leading to cardiac anomalies with skin, teeth, and hair abnormalities.
View Article and Find Full Text PDFObjectives: Appropriate tuberculosis (TB) management requires anti-TB drugs resistance detection. We assessed the performance of rapid resistance detection assays and their impact on treatment adaptation, focusing on isoniazid resistant (Hr) TB.
Methods: From 2016 to 2022, all TB cases enrolled in 3 hospitals were reviewed for phenotypic drug susceptibility testing (p-DST) and genotypic DST (g-DST) performed by rapid molecular testing, and next generation sequencing (NGS).
Introduction: Exome sequencing (ES) has widened the field of nephrogenomics in adult nephrology. In addition to reporting the diagnostic yield of ES in an adult cohort study, we investigated the clinical implications of molecular diagnosis and developed a clinical score to predict the probability of obtaining positive result.
Methods: From September 2018 we have used ES to prospectively perform a first-tier liberal exploration of adult nephropathies of unknown origin and/or when a genetic kidney disease was clinically suggested.
Article Synopsis
- Chromosomal microarray (CMA) is currently the preferred diagnostic tool for rare disorders, detecting copy number variations (CNVs) with a yield of 10%-20%, though whole exome sequencing (WES) and genome sequencing (WGS) are also available.
- This study compares the effectiveness of CMA against GATK4 exome sequencing in identifying coding CNVs, utilizing a cohort of 615 individuals for validation and 2418 for a prospective analysis.
- Results show that WES can improve diagnostic yield by a slight margin when used alongside SNV detection, suggesting it may be more beneficial to reevaluate CNVs before proceeding to WGS after inconclusive CMA or WES results.
Article Synopsis
- The study addresses the challenge of manually reinterpreting sequenced genomic data due to human resource limitations and inconsistent procedures, highlighting the need for more efficient methods.* -
- The Genome Alert! method automates the reporting of clinically significant changes in variant classifications from the ClinVar database, revealing a significant number of changes and new gene-disease associations over a two-year period.* -
- The use of Genome Alert! resulted in a high validation rate of classification changes, leading to new diagnoses for several patients and the identification of valuable gene-disease associations not previously documented in existing databases.*