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.
Deletions and Obesity
December 07, 2009
British researchers report that a 16p11.2 deletion is associated with severe early-onset obesity. That deletion, as they say in Nature, includes the SH2B1 gene that is involved in leptin and insulin signaling. "This is the first evidence that copy number variants have been linked to a metabolic condition such as obesity," the Wellcome Trust Sanger Institute's Matt Hurles says in the UK's Telegraph. The Telegraph story also notes that some children in the study had been placed on the "at risk register because of fears they were being overfed" and have since been removed from the list.
