A new study from Mount Sinai presents a novel methodology for investigating digenic inheritance in human disease, identifying gene pairs involved in congenital heart disease.
Credit: Kars ME, Stein D, Stenson PD, Cooper DN, Chung WK, Gruber PJ, Seidman CE, Shen Y, Tristani-Firouzi M, Gelb BD, Itan Y. Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet, 2025; (DOI: 10.1016/j.ajhg.2025.01.024).
Credit: Kars ME, Stein D, Stenson PD, Cooper DN, Chung WK, Gruber PJ, Seidman CE, Shen Y, Tristani-Firouzi M, Gelb BD, Itan Y. Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data. Am J Hum Genet, 2025; (DOI: 10.1016/j.ajhg.2025.01.024).
New approach uncovers genetic interactions contributing to heart defects.
Scientists at the Icahn School of Medicine at Mount Sinai and collaborators have identified novel genetic interactions that may contribute to congenital heart disease (CHD), a common birth defect. Details on their findings were reported in the February 20 online issue of The American Journal of Human Genetics.