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

Expanded accessibility of genetic sequencing technologies, such as chromosomal
microarray and massively parallel sequencing approaches, is changing the management of …

Aims Despite our increased understanding of the genetic basis of dilated cardiomyopathy
(DCM), the clinical utility and yield of clinically meaningful findings of comprehensive next …

Purpose: To assess the potential of whole-genome sequencing (WGS) to replicate and
augment results from conventional blood-based newborn screening (NBS). Methods …

Background With the expanded availability of next generation sequencing (NGS)-based
clinical genetic tests, clinicians seeking to test patients with Mendelian diseases must weigh …

This paper summarizes the current controversies surrounding the identification and
disclosure of “incidental” or “secondary” findings from genomic sequencing and the …

Next-generation sequencing (NGS) is increasingly being applied to clinical testing. This
practice is predicted to grow especially in neurology clinics because many of their patients …

The development of high-throughput omics technology has greatly promoted the
development of biomedicine. However, the poor reproducibility of omics techniques limits …

The aim of the present study was to identify genomic alterations in Taiwanese endometrial
cancer patients. This information is vitally important in Taiwan, where endometrial cancer is …

Accurate and robust somatic mutation detection is essential for cancer treatment, diagnostics
and research. Various analysis pipelines give different results and thus should be …