Nelson Freimer (psychiatry and biobehavioral sciences professor and director of the Depression Grand Challenge) was interviewed in a UCLA Newsroom article about findings from a study published in Nature he co-led with researchers from UCLA, in collaboration with Washington University School of Medicine in St. Louis; the University of Michigan and 18 other institutions. Researchers studied the DNA of ~20,000 people from parts of Finland with low genetic variation and were able to show the potential for using genome sequencing (genes within the genome) rather than the entire genome to find variations that influence disease.
This is important because gene sequencing is more affordable than whole genome sequencing. While sequencing can work in large populations (i.e.: large countries where there is more migration and variation within populations than Finland) it will take more than a 20,000 person sample size to see results.
Precision medicine will need to take regional differences into account, but in Freimer’s view the study shows that the investment in sequencing human populations is worth it.
Read more at UCLA Newsroom
Genomic Study Helps Identify Rare Genetic Variants Impacting Human Traits – Like Obesity Genetic Obesity News, 09 Oct. 2019
Finnish Exomes Yield New Trait, Disease Associations Involving Rare, Deleterious Variants Genome Web, 31 July 2019
Exome sequencing of Finnish isolates enhances rare-variant association power Nature, 31 July 2019