Personal Genomics, Bioinformatics, and Variomics.

In 2008 at least five complete genome sequences are available. It is known that there are over 15,000,000 genetic variants, called SNPs, in the dbSNP database. The cost of full genome sequencing in 2009 is claimed to be less than $5000 USD. The genomics era has arrived in 2008. This review introduces technologies, bioinformatics, genomics visions, and variomics projects. Variomics is the study of the total genetic variation in an individual and populations. Research on genetic variation is the most valuable among many genomics research branches. Genomics and variomics projects will change biology and the society so dramatically that biology will become an everyday technology like personal computers and the internet. 'BioRevolution' is the term that can adequately describe this changeclose

COMUS: Clinician-Oriented locus-specific MUtation detection and deposition System

Background: A disease-causing mutation refers to a heritable genetic change that is associated with a specific phenotype (disease). The detection of a mutation from a patient's sample is critical for the diagnosis, treatment, and prognosis of the disease. There are numerous databases and applications with which to archive mutation data. However, none of them have been implemented with any automated bioinformatics tools for mutation detection and analysis starting from raw data materials from patients. We present a Locus Specific mutation DB (LSDB) construction system that supports both mutation detection and deposition in one package. Results: COMUS (Clinician-Oriented locus specific MUtation detection and deposition System) is a mutation detection and deposition system for developing specific LSDBs. COMUS contains 1) a DNA sequence mutation analysis method for clinicians' mutation data identification and deposition and 2) a curation system for variation detection from clinicians' input data. To embody the COMUS system and to validate its clinical utility, we have chosen the disease hemophilia as a test database. A set of data files from bench experiments and clinical information from hemophilia patients were tested on the LSDB, KoHemGene http://www.kohemgene.org, which has proven to be a clinician-friendly interface for mutation detection and deposition. Conclusion: COMUS is a bioinformatics system for detecting and depositing new mutations from patient DNA with a clinician-friendly interface. LSDBs made using COMUS will promote the clinical utility of LSDBs. COMUS is available at http://www.comus.info. © 2009 Jho et al; licensee BioMed Central Ltdclose

Gevab: a prototype genome variation analysis browsing server

Background: The first Korean individual diploid genome sequence data (KOREF) was publicized in December 2008. Results: A Korean genome variation analysis and browsing server (Gevab) was constructed as a database and web server for the exploration and downloading of Korean personal genome(s). Information in the Gevab includes SNPs, short indels, and structural variation (SV) and comparison analysis between the NCBI human reference and the Korean genome(s). The user can find information on assembled consensus sequences, sequenced short reads, genetic variations, and relationships between genotype and phenotypes. Conclusion: This server is openly and publicly available online at http://koreagenome.org/en/ or directly http://gevab.orgclose2

PanSNPdb: The Pan-Asian SNP Genotyping Database

The HUGO Pan-Asian SNP consortium conducted the largest survey to date of human genetic diversity among Asians by sampling 1,719 unrelated individuals among 71 populations from China, India, Indonesia, Japan, Malaysia, the Philippines, Singapore, South Korea, Taiwan, and Thailand. We have constructed a database (PanSNPdb), which contains these data and various new analyses of them. PanSNPdb is a research resource in the analysis of the population structure of Asian peoples, including linkage disequilibrium patterns, haplotype distributions, and copy number variations. Furthermore, PanSNPdb provides an interactive comparison with other SNP and CNV databases, including HapMap3, JSNP, dbSNP and DGV and thus provides a comprehensive resource of human genetic diversity. The information is accessible via a widely accepted graphical interface used in many genetic variation databases. Unrestricted access to PanSNPdb and any associated files is available at: http://www4a.biotec.or.th/PASNP

Identification of Close Relatives in the HUGO Pan-Asian SNP Database

The HUGO Pan-Asian SNP Consortium has recently released a genome-wide dataset, which consists of 1,719 DNA samples collected from 71 Asian populations. For studies of human population genetics such as genetic structure and migration history, this provided the most comprehensive large-scale survey of genetic variation to date in East and Southeast Asia. However, although considered in the analysis, close relatives were not clearly reported in the original paper. Here we performed a systematic analysis of genetic relationships among individuals from the Pan-Asian SNP (PASNP) database and identified 3 pairs of monozygotic twins or duplicate samples, 100 pairs of first-degree and 161 second-degree of relationships. Three standardized subsets with different levels of unrelated individuals were suggested here for future applications of the samples in most types of population-genetics studies (denoted by PASNP1716, PASNP1640 and PASNP1583 respectively) based on the relationships inferred in this study. In addition, we provided gender information for PASNP samples, which were not included in the original dataset, based on analysis of X chromosome data

Population Genetic Structure of Peninsular Malaysia Malay Sub-Ethnic Groups

Patterns of modern human population structure are helpful in understanding the history of human migration and admixture. We conducted a study on genetic structure of the Malay population in Malaysia, using 54,794 genome-wide single nucleotide polymorphism genotype data generated in four Malay sub-ethnic groups in peninsular Malaysia (Melayu Kelantan, Melayu Minang, Melayu Jawa and Melayu Bugis). To the best of our knowledge this is the first study conducted on these four Malay sub-ethnic groups and the analysis of genotype data of these four groups were compiled together with 11 other populations' genotype data from Indonesia, China, India, Africa and indigenous populations in Peninsular Malaysia obtained from the Pan-Asian SNP database. The phylogeny of populations showed that all of the four Malay sub-ethnic groups are separated into at least three different clusters. The Melayu Jawa, Melayu Bugis and Melayu Minang have a very close genetic relationship with Indonesian populations indicating a common ancestral history, while the Melayu Kelantan formed a distinct group on the tree indicating that they are genetically different from the other Malay sub-ethnic groups. We have detected genetic structuring among the Malay populations and this could possibly be accounted for by their different historical origins. Our results provide information of the genetic differentiation between these populations and a valuable insight into the origins of the Malay sub-ethnic groups in Peninsular Malaysia

Mapping human genetic diversity in Asia

Asia harbors substantial cultural and linguistic diversity, but the geographic structure of genetic variation across the continent remains enigmatic. Here we report a large-scale survey of autosomal variation from a broad geographic sample of Asian human populations. Our results show that genetic ancestry is strongly correlated with linguistic affiliations as well as geography. Most populations show relatedness within ethnic/linguistic groups, despite prevalent gene flow among populations. More than 90% of East Asian (EA) haplotypes could be found in either Southeast Asian (SEA) or Central-South Asian (CSA) populations and show clinal structure with haplotype diversity decreasing from south to north. Furthermore, 50% of EA haplotypes were found in SEA only and 5% were found in CSA only, indicating that SEA was a major geographic source of EA populations

Demonstration of optical tunable dispersion compensation with a virtually-imaged phased -array based pulse shaper

Tunable dispersion compensation is one of the most essential technologies needed for the next generation fiber optic communication systems. The applications will include replacing various lengths of conventional Dispersion Compensating Fibers (DCF) and compensating residual dispersion after the DCF to meet the tight dispersion tolerances required in 40-Gbps and above based networks. To satisfy the future applications, tunable dispersion compensator (TDC) must provide both positive and negative dispersion as well as large tuning range. The Virtually-Imaged Phased-Array (VIPA) may be considered as a side-entrance etalon device that achieves angular dispersion through multiple beam interference. To our knowledge, we introduced the first VIPA based programmable Fourier transform pulse shaper in the application of optical pulse manipulation in the femtosecond time scale. Here we extend the application of VIPA based pulse shaper to TDC for fiber optic communication systems. Although many TDCs have been demonstrated with various technologies, their tunability is limited to relative small ranges or only provide single wavelength channel compensation. This thesis covers development and demonstration of the VIPA based pulse shaper in the application of TDC which provide WDM-capability, polarization independence, and large tuning range in both positive and negative directions (largest for optical TDC, to our knowledge). The fiber optic transmission system with various modulation formats has been used to evaluate TDC characteristics

Programmable optical pulse burst manipulation using a virtually imaged phased array (VIPA) based Fourier transform pulse shaper

Abstract—This paper presents the first application of the virtually imaged phased array (VIPA) in a Fourier transform pulse shaper for programmable manipulation of optical pulse bursts using a spatial light modulator (SLM). Due to the periodicity of the VIPA spectral dispersion function, a periodic spectral phase function is automatically generated from a single-period spatial phase function. Experimental results and theoretical simulations were compared with quadratic, cubic, and m-sequence mask patterns. The data demonstrate programmable manipulations of the pulse envelopes, in good agreement with the theory. Index Terms—Optical pulse generation, optical pulse shaping, spatial disperser, ultrafast optics. I

Deep Brain Stimulation of the Subthalamic Area for Dystonic Tremor

The stereotactic surgical target for dystonic tremor is the subject of ongoing debate. Targeting the subthalamic area using deep brain stimulation has been regaining interest as a therapy for various types of involuntary movements. We describe the efficacy of stimulation of the subthalamic area in a patient with intractable dystonic tremor. Excellent control without neurological complications was achieved. This case report demonstrates that the subthalamic area is a valuable target for the control of dystonic tremor