For years, two siblings with the distinctive facial features of Treacher Collins syndrome had no genetic explanation for their condition. Exome sequencing came back clean. Chromosomal microarray found ...

KAT, the K-mer Analysis Toolkit, represents a necessary step to ensure that this is the case -- allowing bioinformaticians to work more efficiently and ultimately improve the quality of genome ...

There’s little doubt that it will be possible to sequence any individual’s genome quickly and cheaply within the next few years. But that’s not to say there aren’t significant technology challenges ...