Envisioning a new era: Complete genetic information from routine, telomere-to-telomere genomes

In the next decade, advancements in long-read sequencing technologies will facilitate widespread access to complete, haplotype-phased genome assemblies. This will significantly enhance variant discovery, understanding of genetic diversity, and epigenetic characterization, transforming the field of human genetics and our approach to associating genetic variations with diseases.

Source: The American Journal of Human Genetics - November 2, 2023 Category: Genetics & Stem Cells Authors: Karen H. Miga, Evan E. Eichler Tags: Perspective Source Type: research