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.
Top 10 Most-Read 'PGx Reporter' Stories of 2009: ACLU/Myriad Suit, BRCA Testing, DTC Genomics, FDA Relabeling Figure Big
The most widely read articles in Pharmacogenomics Reporter in 2009 included stories on the American Civil Liberties Union's lawsuit against Myriad Genetics and other patent holders of BRCA mutations; the US Food and Drug Administration's labeling updates to the anti-platelet agent Plavix, as well as the colorectal cancer drugs Erbitux and Vectibix; the growth of direct-to-consumer genomics services, such as 23andMe and Navigenics; Myriad's position on genetic counseling; and big pharma's reasons for investing in personalized medicine.
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