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.
Progenika Plans to Commercialize Array-Based Tests for Blood Typing, FH This Year
The commercialization efforts follow a year of activity that saw Progenika open a 12-person US office, establish a sales and marketing team in Madrid, and expand its headquarters in northern Spain.
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