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

The introduction of next generation sequencing (NGS) has led to an exponential increase of
elucidated genetic causes in both extremely rare diseases and common but heterogeneous …

Purpose As whole-exome sequencing (WES) and whole-genome sequencing (WGS) move
into routine clinical practice, it is timely to review data that might inform the debate regarding …

Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially …

The language of “personalized medicine” and “personal genomics” has now entered the
common lexicon. The idea of personalized medicine is the integration of genomic risk …

A pilot program was initiated using whole genome sequencing (WGS) to diagnose
suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin …

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

Techniques for clinical genetic testing in dementia disorders have advanced rapidly but
remain to be more widely implemented in practice. A positive genetic test offers a precise …

Traditional genetic counseling has focused on the target gene and its natural progress with
respect to disease risk. Next-generation sequencing (NGS) can produce information on …

With the development of next generation sequencing, beyond identifying the cause of
manifestations that justified prescription of the test, other information with potential interest …