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Characterization of Large Structural Genetic Mosaicism in Human Autosomes
Machiela, Mitchell J.,Zhou, W.,Sampson, Joshua N.,Dean, Michael C.,Jacobs, Kevin B.,Black, A.,Brinton, Louise A.,Chang, I.S.,Chen, C.,Chen, C.,Chen, K.,Cook, Linda S.,Crous Bou, M.,De Vivo, I.,Doherty University of Chicago Press [etc.] 2015 American journal of human genetics Vol.96 No.3
Analyses of genome-wide association study (GWAS) data have revealed that detectable genetic mosaicism involving large (>2 Mb) structural autosomal alterations occurs in a fraction of individuals. We present results for a set of 24,849 genotyped individuals (total GWAS set II [TGSII]) in whom 341 large autosomal abnormalities were observed in 168 (0.68%) individuals. Merging data from the new TGSII set with data from two prior reports (the Gene-Environment Association Studies and the total GWAS set I) generated a large dataset of 127,179 individuals; we then conducted a meta-analysis to investigate the patterns of detectable autosomal mosaicism (n = 1,315 events in 925 [0.73%] individuals). Restricting to events >2 Mb in size, we observed an increase in event frequency as event size decreased. The combined results underscore that the rate of detectable mosaicism increases with age (p value = 5.5 x 10<SUP>-31</SUP>) and is higher in men (p value = 0.002) but lower in participants of African ancestry (p value = 0.003). In a subset of 47 individuals from whom serial samples were collected up to 6 years apart, complex changes were noted over time and showed an overall increase in the proportion of mosaic cells as age increased. Our large combined sample allowed for a unique ability to characterize detectable genetic mosaicism involving large structural events and strengthens the emerging evidence of non-random erosion of the genome in the aging population.
Making Smart Shirts Smarter : Optimal Electrode Placement for Cardiac Assessment
M. Donnelly,C. Nugent,D. Finlay,P. McCullagh,N. Black 한국과학기술원 인간친화 복지 로봇 시스템 연구센터 2007 International Journal of Assistive Robotics and Me Vol.8 No.2
The use of smart textiles within clothing offers the facility to monitor patient vital signs in an unobtrusive manner. In the present study we examine the benefits of integrating electrodes into smart shirts taking into consideration aspects of practical limitations in sensor placement. Three practical scenarios are investigated which restrict possible recording sites to the anterior, lateral, and posterior regions, respectively. A wrapper approach incorporating both nearest neighbor and logistic regression models was adopted to search for and extract relevant features. Two discrimination tasks were investigated; identifying between subjects with evidence of old myocardial infarction, and normal healthy subjects; and identifying between subject suffering from left ventricular hypertrophy and healthy subjects. The results from the study indicate that acceptable classification performance is possible even if recording sites are restricted due to practical constraints.
Population-Based Molecular Epidemiology of Leprosy in Cebu, Philippines
Sakamuri, R. M.,Kimura, M.,Li, W.,Kim, H.-C.,Lee, H.,Kiran, M. D.,Black, W. C.,Balagon, M.,Gelber, R.,Cho, S.-N.,Brennan, P. J.,Vissa, V. American Society for Microbiology 2009 Journal of clinical microbiology Vol.47 No.9
<P>To address the persisting problem of leprosy in Cebu, Philippines, we compiled a database of more than 200 patients who attend an established referral skin clinic. We described the patient characteristics in conventional demographic parameters and also applied multiple-locus variable-number tandem-repeat (VNTR) analysis (MLVA) and single nucleotide polymorphism (SNP) typing for Mycobacterium leprae in biopsied skin lesion samples. These combined approaches revealed that transmission is ongoing, with the affected including the young Cebuano population under 40 years of age in both crowded cities and rural areas of the island. The emergence of multicase families (MCF) is indicative of infection unconstrained by standard care measures. For the SNPs, we designed a low-cost PCR-restriction fragment length polymorphism typing method. MLVA in M. leprae was highly discriminatory in this population yet could retain broad groups, as defined by the more stable SNPs, implying temporal marker stability suitable for interpreting population structures and evolution. The majority of isolates belong to an Asian lineage (SNP type 1), and the rest belong to a putative postcolonial lineage (SNP type 3). Specific alleles at two VNTR loci, (GGT)5 and 21-3, were highly associated with SNP type 3 in this population. MLVA identified M. leprae genotype associations for patients with known epidemiological links such as in MCFs and in some villages. These methods provide a molecular database and a rational framework for targeted approaches to search and confirm leprosy transmission in various scenarios.</P>