Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

Attempts to develop MET-targeted therapies have historically focused on MET-expressing
cancers, with limited success. Thus, MET expression in the absence of a genomic marker of …

Copy number variants (CNVs) are major contributors to genetic diversity and disease. While
standardized methods, such as the genome analysis toolkit (GATK), exist for detecting short …

Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …

Public health newborn screening (NBS) programs provide population-scale ascertainment
of rare, treatable conditions that require urgent intervention. Tandem mass spectrometry …

The gradual accumulation of genetic mutations in human adult stem cells (ASCs) during life
is associated with various age-related diseases, including cancer,. Extreme variation in …

Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation
contributes significantly to risk. Using whole-genome sequencing data from 3,474 families …

Worldwide, hundreds of thousands of humans have had their genomes or exomes
sequenced, and access to the resulting data sets can provide valuable information for …

Background Sudden cardiac death among children and young adults is a devastating event.
We performed a prospective, population-based, clinical and genetic study of sudden cardiac …

Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …