A quantitatively-modeled homozygosity mapping algorithm, qHomozygosityMapping, utilizing whole genome single nucleotide polymorphism genotyping data

Homozygosity mapping is a powerful procedure that is capable of detecting recessive disease-causing genes in a few patients from families with a history of inbreeding. We report here a homozygosity mapping algorithm for high-density single nucleotide polymorphism arrays that is able to (i) correct genotyping errors, (ii) search for autozygous segments genome-wide through regions with runs of homozygous SNPs, (iii) check the validity of the inbreeding history, and (iv) calculate the probability of the disease-causing gene being located in the regions identified. The genotyping error correction restored an average of 94.2% of the total length of all regions with run of homozygous SNPs, and 99.9% of the total length of them that were longer than 2 cM. At the end of the analysis, we would know the probability that regions identified contain a disease-causing gene, and we would be able to determine how much effort should be devoted to scrutinizing the regions. We confirmed the power of this algorithm using 6 patients with Siiyama-type α1-antitrypsin deficiency, a rare autosomal recessive disease in Japan. Our procedure will accelerate the identification of disease-causing genes using high-density SNP array data

Appealing avatars from 3D body scans: Perceptual effects of stylization

Advances in 3D scanning technology allow us to create realistic virtual avatars from full body 3D scan data. However, negative reactions to some realistic computer generated humans suggest that this approach might not always provide the most appealing results. Using styles derived from existing popular character designs, we present a novel automatic stylization technique for body shape and colour information based on a statistical 3D model of human bodies. We investigate whether such stylized body shapes result in increased perceived appeal with two different experiments: One focuses on body shape alone, the other investigates the additional role of surface colour and lighting. Our results consistently show that the most appealing avatar is a partially stylized one. Importantly, avatars with high stylization or no stylization at all were rated to have the least appeal. The inclusion of colour information and improvements to render quality had no significant effect on the overall perceived appeal of the avatars, and we observe that the body shape primarily drives the change in appeal ratings. For body scans with colour information, we found that a partially stylized avatar was most effective, increasing average appeal ratings by approximately 34%

Homozygosity Mapping on Homozygosity Haplotype Analysis to Detect Recessive Disease-Causing Genes from a Small Number of Unrelated, Outbred Patients

Genes involved in disease that are not common are often difficult to identify; a method that pinpoints them from a small number of unrelated patients will be of great help. In order to establish such a method that detects recessive genes identical-by-descent, we modified homozygosity mapping (HM) so that it is constructed on the basis of homozygosity haplotype (HM on HH) analysis. An analysis using 6 unrelated patients with Siiyama-type α1-antitrypsin deficiency, a disease caused by a founder gene, the correct gene locus was pinpointed from data of any 2 patients (length: 1.2–21.8 centimorgans, median: 1.6 centimorgans). For a test population in which these 6 patients and 54 healthy subjects were scrambled, the approach accurately identified these 6 patients and pinpointed the locus to a 1.4-centimorgan fragment. Analyses using synthetic data revealed that the analysis works well for IBD fragment derived from a most recent common ancestor (MRCA) who existed less than 60 generations ago. The analysis is unsuitable for the genes with a frequency in general population more than 0.1. Thus, HM on HH analysis is a powerful technique, applicable to a small number of patients not known to be related, and will accelerate the identification of disease-causing genes for recessive conditions

A Bayesian explanation of the 'Uncanny Valley' effect and related psychological phenomena

There are a number of psychological phenomena in which dramatic emotional responses are evoked by seemingly innocuous perceptual stimuli. A well known example is the ‘uncanny valley’ effect whereby a near human-looking artifact can trigger feelings of eeriness and repulsion. Although such phenomena are reasonably well documented, there is no quantitative explanation for the findings and no mathematical model that is capable of predicting such behavior. Here I show (using a Bayesian model of categorical perception) that differential perceptual distortion arising from stimuli containing conflicting cues can give rise to a perceptual tension at category boundaries that could account for these phenomena. The model is not only the first quantitative explanation of the uncanny valley effect, but it may also provide a mathematical explanation for a range of social situations in which conflicting cues give rise to negative, fearful or even violent reactions

Offscreen and in the chair next to your: conversational agents speaking through actual human bodies

his paper demonstrates how to interact with a conversational agent that speaks through an actual human body face-to-face and in person (i.e., offscreen). This is made possible by the cyranoid method: a technique involving a human person speech shadowing for a remote third-party (i.e., receiving their words via a covert audio-relay apparatus and repeating them aloud in real-time). When a person shadows for an artificial conversational agent source, we call the resulting hybrid an “echoborg.” We report a study in which people encountered conversational agents either through a human shadower face-to-face or via a text interface under conditions where they assumed their interlocutor to be an actual person. Our results show that the perception of a conversational agent is dramatically altered when the agent is voiced by an actual, tangible person. We discuss the potential implications this methodology has for the development of conversational agents and general person perception research

Virtual Liver Resection and Volumetric Analysis of the Future Liver Remnant using Open Source Image Processing Software

Ó The Author(s) 2010. This article is published with open access at Springerlink.com Background After extended liver resection, a remnant liver that is too small can lead to postresection liver failure. To reduce this risk, preoperative evaluation of the future liver remnant volume (FLRV) is critical. The open-source OsiriX Ò PAC software system can be downloaded for free and used by nonradiologists to calculate liver volume using a stand-alone Apple computer. The purpose of this study was to assess the accuracy of OsiriX Ò CT volumetry for predicting liver resection volume and FLVR in patients undergoing partial hepatectomy. Methods Preoperative contrast-enhanced liver CT scans of patients who underwent partial hepatectomy were Joost R. van der Vorst and Ronald M. van Dam contributed equally to the study and the manuscript. These authors share first authorship. J. R. van der Vorst R. M. van Dam (&