Background GBA1 variants are among the most common genetic risk factors for Parkinson's
disease (PD). GBA1 variants can be classified into three categories based on their role in …

Technologies such as next-generation sequencing and chromosomal microarray have
advanced the understanding of the molecular pathogenesis of a variety of renal disorders …

While many genetic diseases have effective treatments, they frequently progress rapidly to
severe morbidity or mortality if those treatments are not implemented immediately. Since …

Although it is estimated that COVID-19 life-threatening conditions may be diagnosed in less
than 1: 1000 infected individuals below the age of 50, but the real impact of this pandemic …

The classification of genetic variants represents a major challenge in the post-genome era
by virtue of their extraordinary number and the complexities associated with ascribing a …

By informing timely targeted treatments, rapid whole-genome sequencing can improve the
outcomes of seriously ill children with genetic diseases, particularly infants in neonatal and …

The first genomic scar-based homologous recombination deficiency (HRD) measures were
produced using SNP arrays. As array-based technology has been largely replaced by next …

Purpose Germline pathogenic variants in the exonuclease domain (ED) of polymerases
POLE and POLD1 predispose to adenomatous polyps, colorectal cancer (CRC) …

Advanced and metastatic tumors with complex treatment histories drive cancer mortality.
Here we describe the POG570 cohort, a comprehensive whole-genome, transcriptome and …

Background Inborn errors of immunity (IEI) and autoantibodies to type I interferons (IFNs)
underlie critical COVID-19 pneumonia in at least 15% of the patients, while the causes of …