Advances in Clinical Genomics Profiling
Genetic Causes of Three Rare Diseases Identified From UK 100K Genomes Data by Mount Sinai-led Team
The study is one of the largest on rare diseases and could pave the way for better diagnosis and treatments, according to the researchers.
ACMG Panel Discusses Potential, Pitfalls of Precision Medicine Following Newborn Screening
The panel focused on access and equity issues of precision medicine, especially ones that arise as sequencing is folded into newborn screening programs.
ACMG: Rare Disease Patients in Poor Countries See Benefit from Clinical Whole-Genome Sequencing
Patients in Illumina's global iHope philanthropic clinical WGS program saw changes in their management regardless of whether they lived in wealthy or poor countries.
Healthy Oregon Project Reports at ACMG on Population Genetic Screening Efforts
The project has screened more than 17,000 participants for inherited genetic disorders, particularly hereditary cancer syndromes and familial hypercholesterolemia.
Funded by the Lustgarten Foundation, the researchers plan to analyze 400-plus pancreatic cancer samples to study the genetic changes linked to the disease.