Genome

New research examines how WGS can improve the diagnosis of rare disease in pediatric patients

Genetically adjusted PSA levels are more accurate for prostate cancer diagnosis

The dataset contains nearly 100,000 whole genome sequences, including contributions from diverse participants

NGS workflow solutions enable scientists to focus on more valuable tasks such as interpreting data and making discoveries

AI can help clinical labs ensure the accuracy of their manual interpretations

Researchers debate as to the merits of whole genome sequencing at birth

Almost two dozen genes that contribute to heart defects were identified

Whole Genome Sequencing picks up 31 percent more cases of rare genetic disorders than standard tests

The team identified hundreds of traits, including male- or female-biased diseases such as lupus, that may be influenced

Study highlights the power of comprehensive whole genome, whole exome, and RNA sequencing to better understand cancer