Widespread clinical laboratory implementation of next-generation sequencing–based
cancer testing has highlighted the importance and potential benefits of standardizing the …

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 …

Rare coding variation has historically provided the most direct connections between gene
function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

The implementation of targeted therapies for acute myeloid leukaemia (AML) has been
challenging because of the complex mutational patterns within and across patients as well …

Human cancer cell lines are the workhorse of cancer research. Although cell lines are
known to evolve in culture, the extent of the resultant genetic and transcriptional …

Chronic kidney disease (CKD) is responsible for a public health burden with multi-systemic
complications. Through trans-ancestry meta-analysis of genome-wide association studies of …

Abstract The Million Veteran Program (MVP) was established in 2011 as a national research
initiative to determine how genetic variation influences the health of US military veterans …

Although plasma proteins have important roles in biological processes and are the direct
targets of many drugs, the genetic factors that control inter-individual variation in plasma …

In 2015, the American College of Medical Genetics and Genomics (ACMG) and the
Association for Molecular Pathology (AMP) published updated standards and guidelines for …