KCTD13 a Driver of Neurodevelopmental Phenotypes Associated with the 16p11.2 CNV
Golzio, Willer et al., Nature
An international team led by investigators at Duke University shows that KCTD13 "is a major driver for the neurodevelopmental phenotypes associated with the 16p11.2 CNV [copy-number variant]," a finding that it says substantiates "the idea that one or a small number of transcripts within a CNV can underpin clinical phenotypes, and offer an efficient route to identifying dosage-sensitive loci."
Finding the Number
September 03, 2010
Raphael Kopan and his colleagues at Washington University in St. Louis write in Cold Spring Harbor Protocols about a pyrosequencing-based method to determine the copy number of any allele from any genome. Their approach, called reference query pyrosequencing, takes "advantage of the fact that pyrosequencing can accurately measure the molar ratio of DNA fragments in a mixture that differ by a single nucleotide," they write. At Bench Marks, the Executive Editor of CSH Protocols David Crotty adds that "RQPS is rapid, inexpensive, sensitive, and adaptable to high-throughput approaches."
good stuff!
good stuff!