CONTEXT - With the decrease in the cost of sequencing, the clinical testing paradigm has shifted from single gene to gene panel and now whole-exome and whole-genome sequencing. Clinical laboratories are rapidly implementing next-generation sequencing-based whole-exome and whole-genome sequencing. Because a large number of targets are covered by whole-exome and whole-genome sequencing, it is cri...

During oral arguments before the Court of Appeals of the Federal Circuit in Association for Molecular Pathology v. US Patent and Trademark Office (AMP v. PTO), a high-profile lawsuit challenging the validity of so-called “gene patents,” Judge Bryson asked the attorney representing Myriad Genetics (owner of the specific patents under attack) whether the company's patents would be infringed by th...

When the field of genomics was in its infancy, the cost to sequence a single human genome was approximately $1 billion. Sequencing technology has become progressively more efficient and less expensive in recent years, and the vision of a $1,000 whole genome sequence soon will be a reality. An increasing number of research protocols are proposing to utilize whole-exome and whole-genome sequencin...

For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We investigated whether whole-genome sequencing (WGS) platforms offer improved coverage of coding regions compared with whole-exome sequencing (WES) platforms, and compared single-base coverage for a large set of exome and genome samples. We find...

Despite continued advances in whole genome sequencing techniques and the development of powerful assembly algorithms, newly sequenced genomes still often suffer from contaminations during the sequencing process. The most common sources of contamination are accessory DNAs deliberately attached to the DNA/RNA under investigation, including vectors, adapters, linkers and PCR primers. However, ther...

Detection of Selection Signatures on the X Chromosome in Iranian Dromedary Camels using Whole Genome Sequencing Data

The growing use of molecular diagnostics poses a wide range of issues and questions concerning informed consent that researchers, health care providers, and others will increasingly need to address. Molecular diagnostics are advancing more rapidly than our ability to decide how best to respond to their complex medical, ethical, legal, psychological, and social implications. Although some of the...

Genome sequencing technology provides new and promising tests for clinical practice, including whole genome sequencing, which measures an individual's complete DNA sequence, and whole exome sequencing, which measures the DNA for all genes coding for proteins. These technologies make it possible to test for multiple genes in a single test, which increases the efficiency of genetic testing. Howev...