Genome-wide Disease Screening in Early Human Embryos with Primary Template-Directed Amplification
Y. Xia, V. Gonzales-Pena, D. Klein, J. Luquette, L. Puzon, N. Siddiqui, V. Reddy, P. Park, B. Behr, C. Gawad
This paper introduces a method to screen early human embryos for genetic variants using primary template-directed amplification, identifying aneuploidy, mitochondrial variants, and disease-causing mutations, and computing polygenic risk scores.
bioRxiv · Jul 6, 2021 · PreprintBioengineering