Molecular diagnostics is a cornerstone of modern precision medicine, broadly understood as tailoring an individual's treatment, follow‐up, and care based on molecular data. In rare …
TG is a shareholder of Westlake Omics Inc. TI is a cofounder of Data4Cure, is on the Scientific Advisory Board and has an equity interest. TI is on the Scientific Advisory Board of …
Rare genetic diseases are typically caused by a single gene defect. Despite this clear causal relationship between genotype and phenotype, identifying the pathobiological …
Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays thanks to the wide adoption of next‐generation sequencing. However, many cases remain …
Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent …
G Eva, G Liese, B Stephanie, H Petr, M Leslie… - Environment …, 2022 - Elsevier
Management of datasets that include health information and other sensitive personal information of European study participants has to be compliant with the General Data …
Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of …
The genomes of thousands of individuals are profiled within Dutch healthcare and research each year. However, this valuable genomic data, associated clinical data and consent are …
F Dhombres, P Morgan, BP Chaudhari… - American Journal of …, 2022 - Wiley Online Library
Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally …