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.
A Variant Here, But Not There
December 24, 2009
David Basanta at Cancerevo: Evolution and cancer picked up on a Human Mutatation paper from Bruce Gottlieb and his colleagues that studied the genetic influences on abdominal aortic aneurysms. The researchers found BAK1 SNPs in aneurysmic and healthy tissue without seeing them in the corresponding blood samples. From this, Gottlieb and his colleagues "propose a novel hypothesis postulating that multiple variants of genes may preexist in 'minority' forms within specific nondiseased tissues and be selected for, when intra- and/or extracellular conditions change." This raised a lot of questions in Basanta's mind. He wonders: "How would this affect personalised treatments (i.e. based on doing a genomic analysis of the patient)? Does that mean that finding genetic differences in a cell (when compared with cells in other tissues) does not necessarily constitute cause for alarm (as it does not have to be the result of somatic mutations)?"
This is also an issue with
This is also an issue with MDR1 (ABCB1)