Genetic studies now identify millions of variants across human populations, yet most disease-associated signals fall outside protein-coding regions. This ...

Hereditary cancer risk assessment is a rapidly advancing field, driven by the need for comprehensive variant detection, streamlined genomic workflows, and alignment with evolving guidelines. In the UK ...

Germline non-BRCA1/2 mutations and clinico-radio-pathologic features of early-onset breast cancer patients in Thailand. Genetic counseling (GC) in the era of next generation sequencing (NGS) to ...

Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Accurate interpretation of cancer genomics depends on standardized disease classification, tumor characterization, and ...

For more than six decades, biomarker-based newborn screening has played a pivotal role in reducing infant mortality and long-term disability by enabling early detection of metabolic and endocrine ...

Marcy Richardson from Ambry Genetics discusses the importance of a new study that assessed the functional impact of thousands of BRCA2 variants, identifying those that may increase cancer risk. What ...

Participating institutions connect HiFi whole genome sequencing data and associated metadata within a highly secure federated environment. Hosted by DNAstack and accessible at the platform enables ...

Understanding the Biology and Testing Techniques for Pharmacogenomics in Oncology: A Practical Guide for the Clinician Clinical practice guidelines may also provide algorithm-based guidance for use of ...