Congenital heart disease (CHD) is a common group of birth defects with a strong genetic
contribution to their etiology, but historically the diagnostic yield from exome studies of isolated …

Background The role of synonymous single-nucleotide variants in human health and disease
is poorly understood, yet evidence suggests that this class of “silent” genetic variation …

Background Genetic ancestry, inferred from genomic data, is a quantifiable biological parameter.
While much of the human genome is identical across populations, it is estimated that as …

Diabetes affects millions of Americans, and the correct identification of individuals afflicted
with this disease, especially of those in early stages or in progression towards diabetes, …

Chromosomal microarray (CMA) is a testing modality frequently used in pediatric patients;
however, published data on its utilization are limited to the genetic setting. We performed a …

… Jeff Gaither performed this research while supported under a postdoctoral fellowship from
the National Science Foundation (grant DMS-0931642). Laura Kubatko was also supported …

We use probabilistic and combinatorial tools on strings to discover the average number of 2-protected
nodes in tries and in suffix trees. Our analysis covers both the uniform and non-…

We derive an asymptotic expression for the variance of the number of 2-protected nodes (neither
leaves nor parents of leaves) in a binary trie. In an unbiased trie on n leaves we find, for …

Although the role of evolutionary process in cancer progression is widely accepted, increasing
attention is being given to the evolutionary mechanisms that can lead to differences in …

Knowing a patient's genetic ancestry is crucial in clinical settings, providing benefits such as
tailored genetic testing, targeted health screening based on ancestral disease-…