Spinocerebellar ataxia (SCA) is a heterogeneous group of neurodegenerative ataxic
disorders with autosomal dominant inheritance. We aim to provide an update on the recent …

Malformations of cortical development (MCDs) are neurodevelopmental disorders that result
from abnormal development of the cerebral cortex in utero. MCDs place a substantial …

Background Long-read whole genome sequencing (lrWGS) has the potential to address the
technical limitations of exome sequencing in ways not possible by short-read WGS …

Accurate diagnosis is the cornerstone of medicine; it is essential for informed care and
promoting patient and family well-being. However, families with a rare genetic disease …

With the recent advancement of novel biomedical technologies such as high-throughput
sequencing and wearable devices, multi-modal biomedical data ranging from multi-omics …

A gene is considered essential if loss of function results in loss of viability, fitness or in
disease. This concept is well established for coding genes; however, non-coding regions …

Advances in technologies for assessing genomic variation and an increasing understanding
of the effects of genomic variants on health and disease are driving the transition of …

Purpose Reanalysis of exome sequencing data when results are negative may yield
additional diagnoses. We sought to estimate the contribution of clinical geneticists to the …

In many cases of chronic kidney disease, the cause of disease remains unknown despite a
thorough nephrologic workup. Genetic testing has revolutionized many areas of medicine …

Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving …