Genomics News

New Human Pangenome Reference Enhances Chromosome Biology Understanding.

Researchers from the University of Tennessee Health Science Center have made a foundational discovery about chromosome biology through their work on the first-ever human pangenome reference. The draft pangenome uses complete genome assemblies to provide a diverse look at the genetic makeup of humans. The pangenome project aims to map the entirety of human genetic variation to create a comprehensive reference for geneticists to use to compare DNA sequences, which can aid in the study of connections between genes and diseases. The UTHSC researchers discovered different acrocentric chromosomes can recombine with each other to exchange DNA through their shorter arms, which was key to solving the most common type of chromosomal abnormality in humans.