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 …

Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Integration of detailed phenotype information with genetic data is well established to
facilitate accurate diagnosis of hereditary disorders. As a rich source of phenotype …

We report principles and guidelines (Supplementary Note) that were developed by the Next-
Generation Sequencing: Standardization of Clinical Testing II (Nex-StoCT II) informatics …

The genetic architecture of amyotrophic lateral sclerosis (ALS) is being increasingly
understood. In this far-reaching review, we examine what is currently known about ALS …

Digenic inheritance (DI) is the simplest form of inheritance for genetically complex diseases.
By contrast with the thousands of reports that mutations in single genes cause human …

We developed an algorithm, HMZDelFinder, that uses whole exome sequencing (WES) data
to identify rare and intragenic homozygous and hemizygous (HMZ) deletions that may …

Whole exome sequencing has altered the way in which rare diseases are diagnosed and
disease genes identified. Hundreds of novel disease-associated genes have been …

Massive parallel sequencing technology has become the predominant technique for genetic
diagnostics and research. Many genetic laboratories have wrestled with the challenges of …