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.
Pfizer Shares Data for First-of-its-Kind NSCLC Drug Targeting EML4-ALK Mutations in Cancer Cells
The drug "is the first agent in clinical development that selectively targets a unique genetic feature of cancer cells," Pfizer said in a statement released at ASCO's annual meeting here this week.
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