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.
Q&A: Belgian Cyto Lab to Evaluate OGT's Arrays for Prenatal Diagnostics Service
Oxford Gene Technology announced last week that the Center of Human Genetics in Katholieke Universiteit Leuven recently began assessing its CytoSure arrays for use in prenatal screening.
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