JAX studies structural variants in human genome

A paper published in Nature Communications delves deeper into individual genomic differences than ever before.

The work involved a large international team of researchers from the Human Genome Structural Variation Consortium, including researchers from The Jackson Laboratory, who used a full suite of genomic technologies to extensively analyze the genomes of three family trios (parents and child).

The technologies used include long-read, short-read, and strand-specific sequencing technologies, optical mapping and multiple computer algorithms for structural variant detection.