Glaucoma, a diverse group of eye disorders that results in the degeneration of retinal
ganglion cells, is the world's leading cause of irreversible blindness. Apart from age and …

Recurrent pregnancy loss (RPL) has become an important reproductive health issue
worldwide. RPL affects about 2%–3% of reproductive-aged women, and makes serious …

Over the past decade, Next-Generation Sequencing (NGS) has advanced our
understanding, diagnosis, and management of several areas within dermatology. NGS has …

Exome sequencing is utilized in routine clinical genetic diagnosis. The technical robustness
of repurposing large-scale next-generation sequencing data for pharmacogenetics has …

Background As the technology of next generation sequencing rapidly develops and costs
are constantly reduced, the clinical availability of whole genome sequencing (WGS) …

Background: Depression is associated with Alzheimer's disease (AD). Objective: To
evaluate the association between depressive symptoms and age of onset of cognitive …

The contribution of mosaicism to diagnosed genetic disease and presumed de novo variants
(DNV) is under investigated. We determined the contribution of mosaic genetic disease …

Acute respiratory distress syndrome (ARDS) is a life-threatening lung condition that arises
from multiple causes, including sepsis, pneumonia, trauma, and severe coronavirus disease …

Hereditary spinocerebellar degeneration (SCD) encompasses an expanding list of rare
diseases with a broad clinical and genetic heterogeneity, complicating their diagnosis and …

Comprehensive genome analysis may reveal secondary findings (SFs) including
pathogenic variants of genes other than those originally targeted. Comprehensive genetic …