Department of Genetics and Biochemistry assistant professor and member of the Center for Human Genetics Dr. Miriam Konkel is part of a team of scientists that have produced the most complete and accurate look at the human genome to date, even in regions that have long been considered too complex to resolve.
“The greatest advancement in this work is that we can get into these really difficult regions and build the structure and show the genetic variation within them, and now investigate how they are contributing to phenotypes or disease,” said Dr. Konkel.
The team of 65 individuals, making up the Human Genome Structural Variation Consortium, represent a variety of the world’s populations. The team assembled near-complete genomes, advancing the scientific exploration of complex genetic structural variation.
Detailed findings were published in the scientific journal Nature in an article titled, “Complex genetic variation in nearly complete human genomes.”
Read more in the Clemson News article.
