Family-Based Whole-Genome Sequencing Reveals Candidates for Mendelian Disease
Roach, Glusman et al., Science
Researchers at the Institute for Systems Biology and Complete Genomics have identified candidate disease-causing genes for Miller syndrome and ciliary dyskinesia, both Mendelian disorders. They sequenced the genomes of a family of four, allowing them to determine recombination sites with precision (at 99.999 percent accuracy) and identify rare single-nucleotide polymorphisms. "Our results demonstrate the unique value of complete genome sequencing in families," the authors write.
The Changing Face of Biobanks
As genomics and proteomics become increasingly clinical in nature, the need for excellent sample collections is turning into a major bottleneck to large-scale studies. Repositories are racing to set standards and meet privacy and other concerns in their collections.
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