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.
Brown University Scientists Explore Magnetic Tweezers for Controlling DNA's Speed Through Nanopore
The researchers, who published their results last week in Nanotechnology, say their "reverse DNA translocation" method could be useful for solid-state as well as protein nanopore sequencing and is suitable for multiplexing.
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