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.
Sticking to Business, Affymetrix, Illumina Offer Glimpse of ‘08 in Third-Quarter Calls
Both Illumina and Affymetrix saw a surge in instrumentation sales during the third quarter as well as continued uptake of their microarray products for both gene expression and genotyping. The firms also provided updates on their relationships with personal genetics companies.
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