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

Variant interpretation in cancer susceptibility genes presents unique challenges due to issues such as phenocopies, incomplete/age-related penetrance and the mortality associated with the phenotype.

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 ...

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 ...

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 ...

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 ...

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 ...