Whole genome sequencing of entire family beneficial

March 12, 2016

???An important finding is that by determining the genome sequences of an entire family one can identify many DNA sequencing errors, and thus greatly increase the accuracy of the data,??? said Leroy Hood, MD, PhD, the paper??s other corresponding author, and co-founder and president of ISB. "This will ultimately help us understand the role of genetic variations in the diagnosis, treatment, and prevention of disease."

An exciting finding from this study, the first direct estimate of human intergenerational mutation rate, is how much the genome changes from one human generation to the next ?? the intergenerational mutation rate. The researchers found that gene mutations from parent to child occurred at half the most widely expected rate.

???This estimate could have implications for how we think about genetic diversity, but more importantly the approach has the potential to increase enormously the power and impact of genetic research,??? said Galas. ???Our study illustrates the beginning of a new era in which the analysis of a family??s genome can aid in the diagnosis and treatment of individual family members. We could soon find that our family??s genome sequence will become a normal part of our medical records.???

Source Institute for Systems Biology