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.
SIB's Bairoch to Step Down as Swiss-Prot Director to Launch New Human Protein Resource
The new resource, called CALIPHO, or Computer and Laboratory Investigation of Proteins of Human Origin, will combine bioinformatics, curation, and experimental efforts to gain new insights into human proteins.
New to GenomeWeb? Register quickly here.