MOTIVATION In recent years, there has been an increasing interest in using common single-nucleotide polymorphisms (SNPs) amassed in genome-wide association studies to investigate rare haplotype effects on complex diseases. Evidence has suggested that rare haplotypes may tag rare causal single-nucleotide variants, making SNP-based rare haplotype analysis not only cost effective, but also more va...

Background Craniofacial clefts are congenital anomalies which pose a management challenge to cleft surgeons, especially in developing countries. The aim of this study is to share our experience regarding the management of these atypical facial clefts. Patients and Methods This prospective study was carried out from May 2009 to May 2014 at Federal Medical Centre, Nguru, Nigeria. Diagnosis was ...

We study a model that gives rise to spatially inhomogeneous population densities in a system of host individuals subject to rare, randomly distributed disease events. For stationary hosts that disperse offspring over short distances, evolutionary dynamics can lead to persistent populations with a variety of spatial structures. A mean-field analysis is shown to account for the behavior observed ...

Rare variants (RVs) will likely explain additional heritability of many common complex diseases; however, the natural frequencies of rare variation across and between human populations are largely unknown. We have developed a powerful, flexible collapsing method called BioBin that utilizes prior biological knowledge using multiple publicly available database sources to direct analyses. Variants...

In the first quantitative study of an endemic New Zealand aphid, the only known field populations of the rare Paradoxaphis plagianthi were monitored for two years from 1999 to 2001. The species appears to be anholocyclic, persisting viviparously throughout the year on its deciduous host tree, the lowland ribbonwood (Plagianthus regius). Local aphid abundance increased rapidly in spring as new l...

Nora’s lesion or bizarre periosteal osteochondromatous proliferation, first described by Nora in 1983 [1], is a very rare condition with only about 160 cases being described in the literature since then [2,3]. It is more common in adults, in their third to fourth decade [1,2,4] and occurs mostly on the proximal and middle phalanges, metacarpal and metatarsal bones [5]. The etiology of this lesi...

We model evolution according to an asymmetric game as occurring in multiple finite populations, one for each role in the game, and study the effect of subjecting individuals to stochastic strategy mutations. We show that, when these mutations occur sufficiently infrequently, the dynamics over all population states simplify to an ergodic Markov chain over just the pure population states (where e...

Burgess et al.’s report in PNAS, “Range contraction enables harvesting to extinction” (1), provides a highly valuable perspective on the consequences of species range contractions that maintain local densities of declining populations. The authors suggest that this densitydependent contraction maintains local harvesting yields and economic incentives that enable depleted natural populations of ...

OBJECTIVES Identifying drivers of complex traits from the noisy signals of genetic variation obtained from high-throughput genome sequencing technologies is a central challenge faced by human geneticists today. We hypothesize that the variants involved in complex diseases are likely to exhibit non-neutral evolutionary signatures. Uncovering the evolutionary history of all variants is therefore ...

brown-vialetto-van laere syndrome (bvvls) is a rare neurological disorder. we report our finding about four patients clinically and electrophysiologically diagnosed as bvvls and denoted their clinical features with comparison to previous reports. the first symptom was bilateral hearing loss and the onset of other cranial nerves involvement varied between 0-15 years. our patients represented som...