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.
Team Finds New Cancer Gene Fusions Using Paired End Sequencing
Researchers from the University of Michigan, Illumina, and the Michigan Center for Translational Pathology detected gene fusions in four human cell lines and a few tumor samples using high-throughput paired-end transcriptome sequencing.
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