The Institute for Systems Biology (ISB) has analyzed the first whole
genome sequences of a human family of four. The findings of a project
funded through a partnership between ISB and the University of
Luxembourg was published online today by Science on its Science
Express website. It demonstrates the benefit of sequencing entire
families, including lowering error rates, identifying rare genetic
variants and identifying disease-linked genes.
“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.”
“We were very pleased and a little surprised at how much additional
information can come from examining the full genomes of the same
family.” said David Galas, PhD, a corresponding author on the paper, an
ISB faculty member and its senior vice president of strategic
partnerships. “Comparing the sequences of unrelated individuals is
useful, but for a family the results are more accurate. We can now see
all the genetic variations, including rare ones, and can construct the
inheritance of every piece of the chromosomes, which is critical to
understanding the traits important to health and disease.”
“The continuing decline in the difficulty and cost of sequencing now
enables us to use these new strategies for deriving genetic information
that was too difficult or expensive to access in the past,” Galas said.
ISB partnered with Complete Genomics, based in Mountain View California,
to sequence the genomes of a father, mother and two children. Both
children had two recessive genetic disorders, Miller syndrome, a rare
craniofacial disorder, and primary ciliary dyskinesia (PCD), a lung
disease. By sequencing the entire family, including the parents,
researchers were able to reduce the number of candidate genes associated
with Miller syndrome to four.