For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

Clinical genome sequencing now delivers genetic diagnoses for about 1 in 4 suspected rare disease patients, guiding targeted ...

Stanford develops protein-to-DNA method enabling high-throughput protein sequencing Technique detects up to 1,000 times more ...

WEST MICHIGAN — October is Menopause Awareness Month, and the focus on the role of DNA sequencing in women's health during menopause is an emerging frontier of medicine. Women often face a wave of new ...

DNA methylation is a highly studied epigenetic modification that is involved in regulating genome function and plays fundamental roles in development and disease. 1 It is linked to a broad range of ...

Researchers from Children's Hospital of Philadelphia (CHOP) developed a new RNA sequencing strategy that can reveal how ...

Cancer cells excel at evading detection, but subtle chemical differences set them apart from healthy cells. Now, a team of ...

Detecting whether osteosarcoma, a rare but aggressive bone cancer that most often affects children and adolescents, has ...

Readouts of the full DNA of children with cancer at diagnosis have been implemented as the standard of care in a European first. By determining a child's type of cancer as precisely as possible, the ...