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.
IDT Aims to Develop U1 Adaptors as Gene-Silencing Alterative, siRNA Adjunct
The technology, however, is not quite ready for prime time, and IDT is currently waiting for word on whether it has received a grant that would provide the funding necessary to further refine the approach.
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