Genetic testing has become an integral component of the diagnostic evaluation of patients
with suspected primary immunodeficiency diseases. Results of genetic testing can have a …

Valid variant calling results are crucial for the use of next-generation sequencing in clinical
routine. However, there are numerous variant calling tools that usually differ in algorithms …

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 …

Identification of genetic variations is a central part of population and quantitative genomics
studies based on high-throughput sequencing data. Even though popular variant callers …

For the first time in Europe hundreds of rare disease (RD) experts team up to actively share
and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU …

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 …

Comprehensive and accurate detection of variants from whole-genome sequencing (WGS)
is a strong prerequisite for translational genomic medicine; however, low concordance …

Rett syndrome (RTT) is a monogenic rare disorder that causes severe neurological
problems. In most cases, it results from a loss‐of‐function mutation in the gene encoding …

Abstract Purpose Within the Solve-RD project (https://solve-rd. eu/), the European Reference
Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to …

Purpose TRAPPC9 deficiency is an autosomal recessive disorder mainly associated with
intellectual disability (ID), microcephaly, and obesity. Previously, TRAPPC9 deficiency has …