Precision medicine is making an impact on patients, health care delivery systems, and
research participants in ways that were only imagined fifteen years ago when the human …

The majority of rare diseases affect children, most of whom have an underlying genetic
cause for their condition. However, making a molecular diagnosis with current technologies …

Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

Genetic diseases are leading causes of childhood mortality. Whole-genome sequencing
(WGS) and whole-exome sequencing (WES) are relatively new methods for diagnosing …

There is great potential for genome sequencing to enhance patient care through improved
diagnostic sensitivity and more precise therapeutic targeting. To maximize this potential …

Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …

Ten years ago next-generation sequencing (NGS) technologies appeared on the market.
During the past decade, tremendous progress has been made in terms of speed, read …

Mounting evidence has highlighted the implementation of big data handling and
management in the healthcare industry to improve the clinical services. Various private and …

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

Importance While congenital malformations and genetic diseases are a leading cause of
early infant death, to our knowledge, the contribution of single-gene disorders in this group …