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 …

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 …

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 …

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 …

Whole genome sequencing (WGS) improves Mendelian disorder diagnosis over whole
exome sequencing (WES); however, additional diagnostic yields and costs remain …

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 …

To assess the relative impact of inherited and de novo variants on autism risk, we generated
a comprehensive set of exonic single-nucleotide variants (SNVs) and copy number variants …

We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …