A New Biophysical Metric for Interrogating the Information Content in Human Genome Sequence Variation: Proof of Concept

Various studies have shown an association between single nucleotide polymorphisms (SNPs) and common disease. We hypothesize that information encoded in the structure of SNP haploblock variation illumines molecular pathways and cellular mechanisms involved in the regulation of host adaptation to the environment. We developed and utilized the normalized information content (NIC), a novel metric based on SNP haploblock variation. We found that all SNP haploblocks with statistically low information content contained putative transcription factor binding sites and microRNA motifs. We were able to translate a biophysical, mathematical measure of common variants into a deeper understanding of the life sciences through analysis of biochemical patterns associated with SNP haploblock variation. We submit that this new metric, NIC, may be useful in decoding the functional significance of common variation in the human genome and in analyzing the regulation of molecular pathways involved in host adaptation to environmental pathogens.Comment: 13 page

The effects of improved auditory feedback on the verbalizations of an autistic child

Allowing autistic children to control the volume and direction of their auditory inputs apparently affects their language behavior. Further studies are needed, however, to determine the extent that use of devices such as the Phonic Ear will be of value in increasing vocalizations in these children.Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/44598/1/10803_2005_Article_BF01531619.pd

Structural versus Electrical Functionalization of Oligo(phenyleneethynylene) Diamine Molecular Junctions

We explore both experimentally and theoretically the conductance and packing of molecular junctions based on oligo(phenyleneethynylene) (OPE) diamine wires, when a series of functional groups are incorporated into the wires. Using the scanning tunnelling microscopy break-junction (STM BJ) technique, we study these compounds in two environments (air and 1,2,4-trichlorobenzene) and explore different starting molecular concentrations. We show that the electrical conductance of the molecular junctions exhibits variations among different compounds, which are significant at standard concentrations but become unimportant when working at a low enough concentration. This shows that the main effect of the functional groups is to affect the packing of the molecular wires, rather than to modify their electrical properties. Our theoretical calculations consistently predict no significant changes in the conductance of the wires due to the electronic structure of the functional groups, although their ability to hinder ring rotations within the OPE backbone can lead to higher conductances at higher packing densities