The AHA recommended whole exome or whole genome sequencing as first-line diagnostic tools for mitochondrial diseases.

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

Transformed SCLC from EGFR-mutated LUAD shows a unique mutational profile, complicating treatment approaches and highlighting the need for tailored therapies. Whole exome sequencing revealed ...

Genetic mutations in human DNA can prevent proteins that perform important functions in the body from being formed correctly. This can lead to serious disorders that cause disease or even disability.

An abnormal region in the TAF1 gene is responsible for the disease. That region contains subtle DNA changes, known as disease-specific single nucleotide changes (DSCs), and they are not routinely ...

How was a new rare disease discovered through Singapore’s Undiagnosed Disease Program? And how will technology allow us to change how we discover rare diseases in the future? Read more to find out.

Genedx Holding Corp. launched Genomedx Prenatal, its whole genome sequencing test, to provide more definitive diagnoses of the causes of fetal abnormalities identified by ultrasound. By combining the ...