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.
At Least $145M in FY '09 NIH Stimulus Funding Goes to Sequencing; Disease-Focused Studies Dominate
Three-quarters of the funding went to a variety of sequencing projects that are using patient samples to study human disease, followed by projects for sequencing technology development, computational development, metagenomics, gene regulation, and sequencing instrumentation purchases.
New to GenomeWeb? Register quickly here.