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.
Skyline Dx to Spend $7.2M in New Funds on Clinical Trials for Array-Based AML Test, Operations
The molecular diagnostics company, based in Rotterdam, the Netherlands, will use the proceeds to fund additional validation studies of its Affymetrix-manufactured test for acute myeloid leukemia, as well as to flesh out its business-development team as it ramps up for an eventual US launch.
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