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.
BG Medicine Inks CRADA with NHLBI, BU to ID Heart Disease Markers from Framingham Study
Research conducted under the five-year CRADA could lead to the development of a new blood test that predicts patients at risk for heart disease and metabolic syndrome. The collaboration could also lead to the development of new targeted drugs.
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