Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The
majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal …

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 …

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

Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …

Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …

Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …

Recent advances in single-cell sequencing hold great potential for exploring biological
systems with unprecedented resolution. Sequencing the genome of individual cells can …

Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are
observed throughout cancers. Here, we survey mtDNA copy number variation across 22 …

Objective: Rapid advances of high-throughput technologies and wide adoption of electronic
health records (EHRs) have led to fast accumulation of–omic and EHR data. These …

We developed and clinically validated a hybrid capture next generation sequencing assay to
detect somatic alterations and microsatellite instability in solid tumors and hematologic …