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 Company's Gone, But What About the Data?
Inspired by the financial problems at TruGenetics and DeCode, a guest post at Genetic Future from Genomics Law Report's Daniel Vorhaus and Lawrence Moore discusses what happens when a direct-to-consumer genomics company goes out of business. In particular, they take a look at the company's privacy and confidentiality policies. What will become of the users' data comes down to that fine print. Vorhaus and Moore conclude: