Sequence analysis of the VSX1 and SOD1 genes in families with Keratoconus and a review of the literature

AbstractObjectiveKeratoconus (KC) is a non-inflammatory disorder of the cornea in which the cornea becomes thin and conical, inducing myopia and irregular astigmatism and resulting in mild to marked impairment of vision. The present study was designed to screen two candidate KC genes to identify pathogenic sequence variants responsible for KC in Saudi families.MethodsPeripheral blood samples from members of five Saudi families with KC from the Northern region were collected. Genomic DNA was isolated, and bidirectional sequencing was performed of all coding exons of VSX1 and SOD1 genes using Sanger sequencing.ResultsAll five of the KC families showed a pattern of autosomal recessive inheritance. Phenotyping of these families was performed by a senior ophthalmologist. Sequence analysis of the VSX1 and SOD1 genes failed to reveal any pathogenic sequence variant that could account for KC in the affected individuals.ConclusionOur failure to detect sequence variants in two of the known KC associated genes triggers an interest in other known KC candidate genes, including miR-184, DOCK9, IL1RN and SLC4A11. Future genotyping with dense SNP arrays followed by exome sequencing in these families will be a useful approach to identify the gene(s) underlying KC in this Saudi cohort, which may be different from those reported elsewhere

The effect of nanodiamonds on candida albicans adhesion and surface characteristics of PMMA denture base material : an in vitro study

Candida albicans is the main causative pathogen of denture stomatitis, which affects many complete denture patients. Objective: To evaluate the effect of different concentrations of nanodiamonds (NDs) added to polymethyl methacrylate (PMMA) denture base material on Candida albicans adhesion as well as on surface roughness and contact angle. Methodology: Acrylic resin specimens sized 10×10×3 mm3 were prepared and divided into four groups (n=30) according to ND concentration (0%, 0.5%, 1%, 1.5% by wt). Surface roughness was measured with a profilometer, and the contact angle with a goniometer. The effect of NDs on Candida albicans adhesion was evaluated using two methods: 1) slide count and 2) direct culture test. Analysis of variance (ANOVA) and Tukey's post hoc test were used in the statistical analyses. Results: Addition of NDs decreased the Candida albicans count significantly more than in the control group (p<0.05), with a lowest of 1% NDs. Addition of NDs also significantly decreased the surface roughness (p<0.05), but the contact angle remained the same. Incorporation of NDs into the PMMA denture base material effectively reduced Candida albicans adhesion and decreased surface roughness. Conclusion: PMMA/NDs composites could be valuable in the prevention of denture stomatitis, which is considered one of the most common clinical problems among removable denture wearers

Influence of artificial aging and ZrO2 nanoparticle-reinforced repair resin on the denture repair strength

Background: The purpose of this study was to evaluate the effect of aging process on the tensile strength (TS) of repaired acrylic denture base using ZrO2 nanoparticles (nano-ZrO2)-reinforced autopolymerized resin. Material and Methods: A total of 240 heat-polymerized acrylic resin specimens (n=10) were prepared and sectioned creating 2 mm-repair-gap. Autopolymerized acrylic resin, pure and modified with 2.5, 5, and 7.5wt% nano-ZrO2were used for specimens repair. TS of repaired specimens were measured using the universal testing machine af-ter water immersion at 37oC for 2, 7 and 30 days. At each time interval, half the immersed specimens underwent thermo-cycling aging process (5000 cycles at 5/55°C) before TS testing. One-way ANOVA and Tukey-Kramer multiple-comparison tests were used for data analysis at ?=0.05. Results: Aging process for all groups showed significant differences in TS between unreinforced and nano-ZrO2reinforced groups (p<0.05). Within immersed nano-ZrO2-reinforced specimens, 5% group immersed for 30-days showed the highest significant TS value (p<0.05). With regards to thermocycling, 5% group showed the highest TS values after 2-days and 30-days groups while after 7-days, significant differences were found between 2.5% group and 5% and 7.5% groups (p?0.05). SEM images analysis displayed the ductile fracture type for nano-ZrO2reinforced groups.Conclusions: In summary, 5.0%-nano-ZrO2 addition to repair resin showed an improvement in tensile strength of repaired acrylic resin with different aging processes

Chromatographic Separation, Total Determination and Chemical Speciation of Mercury in Environmental Water Samples Using 4-(2-Thiazolylazo) Resorcinol-Based Polyurethane Foam Sorbent-Packed Column

A simple method has been developed for quantitative retention of traces of mercury(II) ions from aqueous media using polyurethane foams (PUFs) loaded with 4-(2-thiazolylazo) resorcinol (TAR). The kinetics and thermodynamics of the sorption of mercury(II) ions onto PUFs were studied. The sorption of mercury(II) ions onto PUF follows a first-order rate equation with k = 0.176 ± 0.010 min−1. The negative values of ΔH and ΔS may be interpreted as the exothermic chemisorption process and indicative of a faster chemisorption onto the active sites of the sorbent. The sorption data followed Langmuir, Freundlich and Dubinin-Radushkevich (D–R) isotherm models. The D-R parameters β, KDR and E were 0.329 mol2 kJ−2, 0.001 μmol g−1 and 1.23 ± 0.07 kJ/mol for the TAR-loaded PUFs, respectively. An acceptable retention and recovery (99.6 ± 1.1%) of mercury(II) ions in water at ≤10 ppb by the TAR-treated PUFs packed columns were achieved. A retention mechanism, involving absorption related to “solvent extraction” and an “added component” for surface adsorption, was suggested for the retention of mercury(II) ions by the used solid phase extractor. The performance of TAR-immobilized PUFs packed column in terms of the number (N), the height equivalent to a theoretical plate (HETP), the breakthrough and critical capacities of mercury(II) ion uptake by the sorbent packed column were found to be 50.0 ± 1.0, 1.01 ± 0.02 mm, 8.75 and 13.75 mg/g, respectively, at 5 mL/min flow rate

The effect of nanodiamonds on candida albicans adhesion and surface characteristics of PMMA denture base material - an in vitro study

Candida albicans is the main causative pathogen of denture stomatitis, which affects many complete denture patients. Objective: To evaluate the effect of different concentrations of nanodiamonds (NDs) added to polymethyl methacrylate (PMMA) denture base material on Candida albicans adhesion as well as on surface roughness and contact angle. Methodology: Acrylic resin specimens sized 10×10×3 mm3 were prepared and divided into four groups (n=30) according to ND concentration (0%, 0.5%, 1%, 1.5% by wt). Surface roughness was measured with a profilometer, and the contact angle with a goniometer. The effect of NDs on Candida albicans adhesion was evaluated using two methods: 1) slide count and 2) direct culture test. Analysis of variance (ANOVA) and Tukey’s post hoc test were used in the statistical analyses. Results: Addition of NDs decreased the Candida albicans count significantly more than in the control group (p<0.05), with a lowest of 1% NDs. Addition of NDs also significantly decreased the surface roughness (p<0.05), but the contact angle remained the same. Incorporation of NDs into the PMMA denture base material effectively reduced Candida albicans adhesion and decreased surface roughness. Conclusion: PMMA/NDs composites could be valuable in the prevention of denture stomatitis, which is considered one of the most common clinical problems among removable denture wearers.</p

Influence of the Diabetes Mellitus Awareness and Knowledge among Diabetic Type 2 in Secondary School Students at Saudi Arabia 2022

Background: Diabetes care behavior plays a crucial role in managing the diabetes effectively and preventing complications. Patients with type 2 diabetes mellitus (T2DM) and health care professionals (HCPs) of rural areas often face unique challenges when it comes to diabetes self-care practices . The Middle East has the highest prevalence of diabetes of any world region, and Saudi Arabia has one of the highest prevalence rates of any country in the Middle East. A reported 18.5 percent of Saudi Arabian adults have diabetes, and the prevalence is increasing. It is a disease with several etiologies. It is one of common diseases in adolescent. Secondary school students with diabetes need special care while they are in school as they may experience problems in glucose levels or other problems. Teachers are persons responsible for students in school, so they should have adequate information and good level of awareness about diabetes to deal with diabetic secondary school students especially in emergency case. Type 2 diabetes mellitus is fast becoming a global epidemic and the number of individuals with diabetes in the world is expected to reach 330 million by 2030. Aim of the study: The study aimed to assessment the level of awareness and knowledge of diabetes mellitus among secondary school students at Saudi Arabia . Method: cross sectional study conducted among secondary school students at Saudi Arabia, during the October 2022 to December 2022, the Sample size of diabetic secondary school students. Our total participants were (800).Results: the participants (59.0%) were in the age group more than 16 years&nbsp; mean ±SD(15.68±1.703), the majority of them were males (60.0%) while female(40.0%),also level of education the majority of participant are secondary level&nbsp; were(64.0%) while intermediate were(33.0%) Conclusion: This review highlights the need for increased awareness and knowledge of diabetes mellitus among diabetic type 2 in secondary school students Saudi Arabia. Raising in secondary school students’ awareness about the primary prevention strategies for T2DM should be a public health priority in Saudi Arabia.&nbsp; The means of improving knowledge and awareness of DM needs to be integrated into existing healthcare systems and processes to better inform patients, families, and communities about this chronic disease

Effects of Goat Manure Fertilization on Grain Nutritional Value in Two Contrasting Quinoa (Chenopodium quinoa Willd.) Varieties Cultivated at High Altitudes

In this study, the effects of goat manure fertilization (2, 4, 8, and 12 Tn/ha) on the grain yield, organic compounds, and mineral composition of two quinoa varieties (CICA-17 and Regalona Baer) were evaluated under field conditions in Northwest Argentina. The results indicate that fertilization improved the quinoa grain yield and total protein content. Low manure doses positively affected the fatty acid (FA) profile, and significant changes were determined for the monounsaturated (MUFA) and polyunsaturated (PUFA) fatty acid contents of CICA-17 and on the saturated fatty acid (SFA) contents of R. Baer seeds. The amino acid contents were positively affected in CICA-17 and negatively in R. Baer. Soluble sugars (glucose, fructose, and sucrose), major elements (K, Si, P, Mg, Ca, and Na), minor elements (Fe, Mn, Al, Zn, and Cu), and ultratrace elements (Cr and Li) were detected and discussed in terms of their impact on human nutrition and health. Conclusively, manure addition affected some essential amino acids, the desaturase activity, the n6:n3 and SFA/UFA ratios, the atherogenic index, soluble sugars, and mineral content, and the fatty acid metabolism of each variety was differently affected, especially the C16 and C18 desaturase activity, which responded differently to various manure doses. Manure addition is a promising alternative to improve the nutritional quality and functionality of quinoa grains, but the response is not linear.EEA FamailláFil: González, Juan A. Fundación Miguel Lillo. Instituto de Ecología, Comportamiento y Conservación; ArgentinaFil: Yousif, Sawsan K.M. Al-Baha University. College of Arts and Science in Baljurashi. Department of Chemistry; Arabia SauditaFil: Erazzu, Luis Ernesto. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Famaillá; ArgentinaFil: Erazzu, Luis Ernesto. Universidad Nacional de Tucumán. Facultad de Agronomía y Zootecnia; ArgentinaFil: Martinez Calsina, Luciana. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Famaillá; ArgentinaFil: Lizarraga, Emilio. Fundación Miguel Lillo. Instituto de Fisiología Animal; ArgentinaFil: Lizarraga, Emilio. Universidad Nacional de Tucumán. Facultad de Ciencias Naturales e Instituto Miguel Lillo; ArgentinaFil: Omer, Rihab M. Al-Baha University. College of Arts and Science in Baljurashi. Department of Chemistry; Arabia SauditaFil: Bazile, D. CIRAD, UMR SENS; FranciaFil: Bazile, D. University Paul Valery Montpellier 3. CIRAD, IRD; FranciaFil: Fernandez-Turiel, J.L. CSIC. Geosciences Barcelona; EspañaFil: Buedo, Sebastián E. Fundación Miguel Lillo. Instituto de Ecología, Comportamiento y Conservación; ArgentinaFil: Rejas, M. CSIC. Geosciences Barcelona; EspañaFil: Fontana, Paola Daniela. Instituto Nacional de Tecnología Agropecuaria (INTA). Estación Experimental Agropecuaria Famaillá; ArgentinaFil: González, D.A. Universidad Nacional de Tucumán. Facultad de Ciencias Naturales e Instituto Miguel Lillo. Instituto de Bioprospección y Fisiología Vegetal (INBIOFIV); ArgentinaFil: González, D.A. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Bioprospección y Fisiología Vegetal (INBIOFIV); ArgentinaFil:Oviedo, A. Fundación Miguel Lillo. Instituto de Fisiología Animal; ArgentinaFil: Alzuaibr, Fahad Mohammed. University of Tabuk. Faculty of Science. Department of Biology; Arabia SauditaFil: Al-Qahtani, Salem Mesfer. University of Tabuk. University College of Tayma. Biology Department; Arabia SauditaFil: Al-Harbi, Nadi Awad. University of Tabuk. University College of Tayma. Biology Department; Arabia SauditaFil: Ibrahim, Mohamed F.M. Ain Shams University. Faculty of Agriculture. Department of Agricultural Botany; EgiptoFil: Van Nieuwenhove, Carina. Universidad Nacional de Tucumán. Facultad de Ciencias Naturales e Instituto Miguel Lillo; ArgentinaFil: Van Nieuwenhove, Carina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Centro de Referencia para Lactobacilos. Laboratorio de Ecofisiología Tecnológica; Argentin

Effects of Goat Manure Fertilization on Grain Nutritional Value in Two Contrasting Quinoa (Chenopodium quinoa Willd.) Varieties Cultivated at High Altitudes

In this study, the effects of goat manure fertilization (2, 4, 8, and 12 Tn/ha) on the grain yield, organic compounds, and mineral composition of two quinoa varieties (CICA-17 and Regalona Baer) were evaluated under field conditions in Northwest Argentina. The results indicate that fertilization improved the quinoa grain yield and total protein content. Low manure doses positively affected the fatty acid (FA) profile, and significant changes were determined for the monounsaturated (MUFA) and polyunsaturated (PUFA) fatty acid contents of CICA-17 and on the saturated fatty acid (SFA) contents of R. Baer seeds. The amino acid contents were positively affected in CICA-17 and negatively in R. Baer. Soluble sugars (glucose, fructose, and sucrose), major elements (K, Si, P, Mg, Ca, and Na), minor elements (Fe, Mn, Al, Zn, and Cu), and ultratrace elements (Cr and Li) were detected and discussed in terms of their impact on human nutrition and health. Conclusively, manure addition affected some essential amino acids, the desaturase activity, the n6:n3 and SFA/UFA ratios, the atherogenic index, soluble sugars, and mineral content, and the fatty acid metabolism of each variety was differently affected, especially the C16 and C18 desaturase activity, which responded differently to various manure doses. Manure addition is a promising alternative to improve the nutritional quality and functionality of quinoa grains, but the response is not linear

Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

: O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s disease Z. Hu, P. Wang, Y. Zhu, J. Zhao, M. Xiong, David A Bennett O11 A microRNA signature identifies subtypes of triple-negative breast cancer and reveals MIR-342-3P as regulator of a lactate metabolic pathway A. Hidalgo-Miranda, S. Romero-Cordoba, S. Rodriguez-Cuevas, R. Rebollar-Vega, E. Tagliabue, M. Iorio, E. D’Ippolito, S. Baroni O12 Transcriptome analysis identifies genes, enhancer RNAs and repetitive elements that are recurrently deregulated across multiple cancer types B. Kaczkowski, Y. Tanaka, H. Kawaji, A. Sandelin, R. Andersson, M. Itoh, T. Lassmann, the FANTOM5 consortium, Y. Hayashizaki, P. Carninci, A. R. R. Forrest O13 Elevated mutation and widespread loss of constraint at regulatory and architectural binding sites across 11 tumour types C. A. Semple O14 Exome sequencing provides evidence of pathogenicity for genes implicated in colorectal cancer E. A. Rosenthal, B. Shirts, L. Amendola, C. Gallego, M. Horike-Pyne, A. Burt, P. Robertson, P. Beyers, C. Nefcy, D. Veenstra, F. Hisama, R. Bennett, M. Dorschner, D. Nickerson, J. Smith, K. Patterson, D. Crosslin, R. Nassir, N. Zubair, T. Harrison, U. Peters, G. Jarvik, NHLBI GO Exome Sequencing Project O15 The tandem duplicator phenotype as a distinct genomic configuration in cancer F. Menghi, K. Inaki, X. Woo, P. Kumar, K. Grzeda, A. Malhotra, H. Kim, D. Ucar, P. Shreckengast, K. Karuturi, J. Keck, J. Chuang, E. T. Liu O16 Modeling genetic interactions associated with molecular subtypes of breast cancer B. Ji, A. Tyler, G. Ananda, G. Carter O17 Recurrent somatic mutation in the MYC associated factor X in brain tumors H. Nikbakht, M. Montagne, M. Zeinieh, A. Harutyunyan, M. Mcconechy, N. Jabado, P. Lavigne, J. Majewski O18 Predictive biomarkers to metastatic pancreatic cancer treatment J. B. Goldstein, M. Overman, G. Varadhachary, R. Shroff, R. Wolff, M. Javle, A. Futreal, D. Fogelman O19 DDIT4 gene expression as a prognostic marker in several malignant tumors L. Bravo, W. Fajardo, H. Gomez, C. Castaneda, C. Rolfo, J. A. Pinto O20 Spatial organization of the genome and genomic alterations in human cancers K. C. Akdemir, L. Chin, A. Futreal, ICGC PCAWG Structural Alterations Group O21 Landscape of targeted therapies in solid tumors S. Patterson, C. Statz, S. Mockus O22 Genomic analysis reveals novel drivers and progression pathways in skin basal cell carcinoma S. N. Nikolaev, X. I. Bonilla, L. Parmentier, B. King, F. Bezrukov, G. Kaya, V. Zoete, V. Seplyarskiy, H. Sharpe, T. McKee, A. Letourneau, P. Ribaux, K. Popadin, N. Basset-Seguin, R. Ben Chaabene, F. Santoni, M. Andrianova, M. Guipponi, M. Garieri, C. Verdan, K. Grosdemange, O. Sumara, M. Eilers, I. Aifantis, O. Michielin, F. de Sauvage, S. Antonarakis O23 Identification of differential biomarkers of hepatocellular carcinoma and cholangiocarcinoma via transcriptome microarray meta-analysis S. Likhitrattanapisal O24 Clinical validity and actionability of multigene tests for hereditary cancers in a large multi-center study S. Lincoln, A. Kurian, A. Desmond, S. Yang, Y. Kobayashi, J. Ford, L. Ellisen O25 Correlation with tumor ploidy status is essential for correct determination of genome-wide copy number changes by SNP array T. L. Peters, K. R. Alvarez, E. F. Hollingsworth, D. H. Lopez-Terrada O26 Nanochannel based next-generation mapping for interrogation of clinically relevant structural variation A. Hastie, Z. Dzakula, A. W. Pang, E. T. Lam, T. Anantharaman, M. Saghbini, H. Cao, BioNano Genomics O27 Mutation spectrum in a pulmonary arterial hypertension (PAH) cohort and identification of associated truncating mutations in TBX4 C. Gonzaga-Jauregui, L. Ma, A. King, E. Berman Rosenzweig, U. Krishnan, J. G. Reid, J. D. Overton, F. Dewey, W. K. Chung O28 NORTH CAROLINA macular dystrophy (MCDR1): mutations found affecting PRDM13 K. Small, A. DeLuca, F. Cremers, R. A. Lewis, V. Puech, B. Bakall, R. Silva-Garcia, K. Rohrschneider, M. Leys, F. S. Shaya, E. Stone O29 PhenoDB and genematcher, solving unsolved whole exome sequencing data N. L. Sobreira, F. Schiettecatte, H. Ling, E. Pugh, D. Witmer, K. Hetrick, P. Zhang, K. Doheny, D. Valle, A. Hamosh O30 Baylor-Johns Hopkins Center for Mendelian genomics: a four year review S. N. Jhangiani, Z. Coban Akdemir, M. N. Bainbridge, W. Charng, W. Wiszniewski, T. Gambin, E. Karaca, Y. Bayram, M. K. Eldomery, J. Posey, H. Doddapaneni, J. Hu, V. R. Sutton, D. M. Muzny, E. A. Boerwinkle, D. Valle, J. R. Lupski, R. A. Gibbs O31 Using read overlap assembly to accurately identify structural genetic differences in an ashkenazi jewish trio S. Shekar, W. Salerno, A. English, A. Mangubat, J. Bruestle O32 Legal interoperability: a sine qua non for international data sharing A. Thorogood, B. M. Knoppers, Global Alliance for Genomics and Health - Regulatory and Ethics Working Group O33 High throughput screening platform of competent sineups: that can enhance translation activities of therapeutic target H. Takahashi, K. R. Nitta, A. Kozhuharova, A. M. Suzuki, H. Sharma, D. Cotella, C. Santoro, S. Zucchelli, S. Gustincich, P. Carninci O34 The undiagnosed diseases network international (UDNI): clinical and laboratory research to meet patient needs J. J. Mulvihill, G. Baynam, W. Gahl, S. C. Groft, K. Kosaki, P. Lasko, B. Melegh, D. Taruscio O36 Performance of computational algorithms in pathogenicity predictions for activating variants in oncogenes versus loss of function mutations in tumor suppressor genes R. Ghosh, S. Plon O37 Identification and electronic health record incorporation of clinically actionable pharmacogenomic variants using prospective targeted sequencing S. Scherer, X. Qin, R. Sanghvi, K. Walker, T. Chiang, D. Muzny, L. Wang, J. Black, E. Boerwinkle, R. Weinshilboum, R. Gibbs O38 Melanoma reprogramming state correlates with response to CTLA-4 blockade in metastatic melanoma T. Karpinets, T. Calderone, K. Wani, X. Yu, C. Creasy, C. Haymaker, M. Forget, V. Nanda, J. Roszik, J. Wargo, L. Haydu, X. Song, A. Lazar, J. Gershenwald, M. Davies, C. Bernatchez, J. Zhang, A. Futreal, S. Woodman O39 Data-driven refinement of complex disease classification from integration of heterogeneous functional genomics data in GeneWeaver E. J. Chesler, T. Reynolds, J. A. Bubier, C. Phillips, M. A. Langston, E. J. Baker O40 A general statistic framework for genome-based disease risk prediction M. Xiong, L. Ma, N. Lin, C. Amos O41 Integrative large-scale causal network analysis of imaging and genomic data and its application in schizophrenia studies N. Lin, P. Wang, Y. Zhu, J. Zhao, V. Calhoun, M. Xiong O42 Big data and NGS data analysis: the cloud to the rescue O. Dobretsberger, M. Egger, F. Leimgruber O43 Cpipe: a convergent clinical exome pipeline specialised for targeted sequencing S. Sadedin, A. Oshlack, Melbourne Genomics Health Alliance O44 A Bayesian classification of biomedical images using feature extraction from deep neural networks implemented on lung cancer data V. A. A. Antonio, N. Ono, Clark Kendrick C. Go O45 MAV-SEQ: an interactive platform for the Management, Analysis, and Visualization of sequence data Z. Ahmed, M. Bolisetty, S. Zeeshan, E. Anguiano, D. Ucar O47 Allele specific enhancer in EPAS1 intronic regions may contribute to high altitude adaptation of Tibetans C. Zeng, J. Shao O48 Nanochannel based next-generation mapping for structural variation detection and comparison in trios and populations H. Cao, A. Hastie, A. W. Pang, E. T. Lam, T. Liang, K. Pham, M. Saghbini, Z. Dzakula O49 Archaic introgression in indigenous populations of Malaysia revealed by whole genome sequencing Y. Chee-Wei, L. Dongsheng, W. Lai-Ping, D. Lian, R. O. Twee Hee, Y. Yunus, F. Aghakhanian, S. S. Mokhtar, C. V. Lok-Yung, J. Bhak, M. Phipps, X. Shuhua, T. Yik-Ying, V. Kumar, H. Boon-Peng O50 Breast and ovarian cancer prevention: is it time for population-based mutation screening of high risk genes? I. Campbell, M.-A. Young, P. James, Lifepool O53 Comprehensive coverage from low DNA input using novel NGS library preparation methods for WGS and WGBS C. Schumacher, S. Sandhu, T. Harkins, V. Makarov O54 Methods for large scale construction of robust PCR-free libraries for sequencing on Illumina HiSeqX platform H. DoddapaneniR. Glenn, Z. Momin, B. Dilrukshi, H. Chao, Q. Meng, B. Gudenkauf, R. Kshitij, J. Jayaseelan, C. Nessner, S. Lee, K. Blankenberg, L. Lewis, J. Hu, Y. Han, H. Dinh, S. Jireh, K. Walker, E. Boerwinkle, D. Muzny, R. Gibbs O55 Rapid capture methods for clinical sequencing J. Hu, K. Walker, C. Buhay, X. Liu, Q. Wang, R. Sanghvi, H. Doddapaneni, Y. Ding, N. Veeraraghavan, Y. Yang, E. Boerwinkle, A. L. Beaudet, C. M. Eng, D. M. Muzny, R. A. Gibbs O56 A diploid personal human genome model for better genomes from diverse sequence data K. C. C. Worley, Y. Liu, D. S. T. Hughes, S. C. Murali, R. A. Harris, A. C. English, X. Qin, O. A. Hampton, P. Larsen, C. Beck, Y. Han, M. Wang, H. Doddapaneni, C. L. Kovar, W. J. Salerno, A. Yoder, S. Richards, J. Rogers, J. R. Lupski, D. M. Muzny, R. A. Gibbs O57 Development of PacBio long range capture for detection of pathogenic structural variants Q. Meng, M. Bainbridge, M. Wang, H. Doddapaneni, Y. Han, D. Muzny, R. Gibbs O58 Rhesus macaques exhibit more non-synonymous variation but greater impact of purifying selection than humans R. A. Harris, M. Raveenedran, C. Xue, M. Dahdouli, L. Cox, G. Fan, B. Ferguson, J. Hovarth, Z. Johnson, S. Kanthaswamy, M. Kubisch, M. Platt, D. Smith, E. Vallender, R. Wiseman, X. Liu, J. Below, D. Muzny, R. Gibbs, F. Yu, J. Rogers O59 Assessing RNA structure disruption induced by single-nucleotide variation J. Lin, Y. Zhang, Z. Ouyang P1 A meta-analysis of genome-wide association studies of mitochondrial dna copy number A. Moore, Z. Wang, J. Hofmann, M. Purdue, R. Stolzenberg-Solomon, S. Weinstein, D. Albanes, C.-S. Liu, W.-L. Cheng, T.-T. Lin, Q. Lan, N. Rothman, S. Berndt P2 Missense polymorphic genetic combinations underlying down syndrome susceptibility E. S. Chen P4 The evaluation of alteration of ELAM-1 expression in the endometriosis patients H. Bahrami, A. Khoshzaban, S. Heidari Keshal P5 Obesity and the incidence of apolipoprotein E polymorphisms in an assorted population from Saudi Arabia population K. K. R. Alharbi P6 Genome-associated personalized antithrombotical therapy for patients with high risk of thrombosis and bleeding M. Zhalbinova, A. Akilzhanova, S. Rakhimova, M. Bekbosynova, S. Myrzakhmetova P7 Frequency of Xmn1 polymorphism among sickle cell carrier cases in UAE population M. Matar P8 Differentiating inflammatory bowel diseases by using genomic data: dimension of the problem and network organization N. Mili, R. Molinari, Y. Ma, S. Guerrier P9 Vulnerability of genetic variants to the risk of autism among Saudi children N. Elhawary, M. Tayeb, N. Bogari, N. Qotb P10 Chromatin profiles from ex vivo purified dopaminergic neurons establish a promising model to support studies of neurological function and dysfunction S. A. McClymont, P. W. Hook, L. A. Goff, A. McCallion P11 Utilization of a sensitized chemical mutagenesis screen to identify genetic modifiers of retinal dysplasia in homozygous Nr2e3rd7 mice Y. Kong, J. R. Charette, W. L. Hicks, J. K. Naggert, L. Zhao, P. M. Nishina P12 Ion torrent next generation sequencing of recessive polycystic kidney disease in Saudi patients B. M. Edrees, M. Athar, F. A. Al-Allaf, M. M. Taher, W. Khan, A. Bouazzaoui, N. A. Harbi, R. Safar, H. Al-Edressi, A. Anazi, N. Altayeb, M. A. Ahmed, K. Alansary, Z. Abduljaleel P13 Digital expression profiling of Purkinje neurons and dendrites in different subcellular compartments A. Kratz, P. Beguin, S. Poulain, M. Kaneko, C. Takahiko, A. Matsunaga, S. Kato, A. M. Suzuki, N. Bertin, T. Lassmann, R. Vigot, P. Carninci, C. Plessy, T. Launey P14 The evolution of imperfection and imperfection of evolution: the functional and functionless fractions of the human genome D. Graur P16 Species-independent identification of known and novel recurrent genomic entities in multiple cancer patients J. Friis-Nielsen, J. M. Izarzugaza, S. Brunak P18 Discovery of active gene modules which are densely conserved across multiple cancer types reveal their prognostic power and mutually exclusive mutation patterns B. S. Soibam P19 Whole exome sequencing of dysplastic leukoplakia tissue indicates sequential accumulation of somatic mutations from oral precancer to cancer D. Das, N. Biswas, S. Das, S. Sarkar, A. Maitra, C. Panda, P. Majumder P21 Epigenetic mechanisms of carcinogensis by hereditary breast cancer genes J. J. Gruber, N. Jaeger, M. Snyder P22 RNA direct: a novel RNA enrichment strategy applied to transcripts associated with solid tumors K. Patel, S. Bowman, T. Davis, D. Kraushaar, A. Emerman, S. Russello, N. Henig, C. Hendrickson P23 RNA sequencing identifies gene mutations for neuroblastoma K. Zhang P24 Participation of SFRP1 in the modulation of TMPRSS2-ERG fusion gene in prostate cancer cell lines M. Rodriguez-Dorantes, C. D. Cruz-Hernandez, C. D. P. Garcia-Tobilla, S. Solorzano-Rosales P25 Targeted Methylation Sequencing of Prostate Cancer N. Jäger, J. Chen, R. Haile, M. Hitchins, J. D. Brooks, M. Snyder P26 Mutant TPMT alleles in children with acute lymphoblastic leukemia from México City and Yucatán, Mexico S. Jiménez-Morales, M. Ramírez, J. Nuñez, V. Bekker, Y. Leal, E. Jiménez, A. Medina, A. Hidalgo, J. Mejía P28 Genetic modifiers of Alström syndrome J. Naggert, G. B. Collin, K. DeMauro, R. Hanusek, P. M. Nishina P31 Association of genomic variants with the occurrence of angiotensin-converting-enzyme inhibitor (ACEI)-induced coughing among Filipinos E. M. Cutiongco De La Paz, R. Sy, J. Nevado, P. Reganit, L. Santos, J. D. Magno, F. E. Punzalan , D. Ona , E. Llanes, R. L. Santos-Cortes , R. Tiongco, J. Aherrera, L. Abrahan, P. Pagauitan-Alan; Philippine Cardiogenomics Study Group P32 The use of “humanized” mouse models to validate disease association of a de novo GARS variant and to test a novel gene therapy strategy for Charcot-Marie-Tooth disease type 2D K. H. Morelli, J. S. Domire, N. Pyne, S. Harper, R. Burgess P34 Molecular regulation of chondrogenic human induced pluripotent stem cells M. A. Gari, A. Dallol, H. Alsehli, A. Gari, M. Gari, A. Abuzenadah P35 Molecular profiling of hematologic malignancies: implementation of a variant assessment algorithm for next generation sequencing data analysis and clinical reporting M. Thomas, M. Sukhai, S. Garg, M. Misyura, T. Zhang, A. Schuh, T. Stockley, S. Kamel-Reid P36 Accessing genomic evidence for clinical variants at NCBI S. Sherry, C. Xiao, D. Slotta, K. Rodarmer, M. Feolo, M. Kimelman, G. Godynskiy, C. O’Sullivan, E. Yaschenko P37 NGS-SWIFT: a cloud-based variant analysis framework using control-accessed sequencing data from DBGAP/SRA C. Xiao, E. Yaschenko, S. Sherry P38 Computational assessment of drug induced hepatotoxicity through gene expression profiling C. Rangel-Escareño, H. Rueda-Zarate P40 Flowr: robust and efficient pipelines using a simple language-agnostic approach;ultraseq; fast modular pipeline for somatic variation calling using flowr S. Seth, S. Amin, X. Song, X. Mao, H. Sun, R. G. Verhaak, A. Futreal, J. Zhang P41 Applying “Big data” technologies to the rapid analysis of heterogenous large cohort data S. J. Whiite, T. Chiang, A. English, J. Farek, Z. Kahn, W. Salerno, N. Veeraraghavan, E. Boerwinkle, R. Gibbs P42 FANTOM5 web resource for the large-scale genome-wide transcription start site activity profiles of wide-range of mammalian cells T. Kasukawa, M. Lizio, J. Harshbarger, S. Hisashi, J. Severin, A. Imad, S. Sahin, T. C. Freeman, K. Baillie, A. Sandelin, P. Carninci, A. R. R. Forrest, H. Kawaji, The FANTOM Consortium P43 Rapid and scalable typing of structural variants for disease cohorts W. Salerno, A. English, S. N. Shekar, A. Mangubat, J. Bruestle, E. Boerwinkle, R. A. Gibbs P44 Polymorphism of glutathione S-transferases and sulphotransferases genes in an Arab population A. H. Salem, M. Ali, A. Ibrahim, M. Ibrahim P46 Genetic divergence of CYP3A5*3 pharmacogenomic marker for native and admixed Mexican populations J. C. Fernandez-Lopez, V. Bonifaz-Peña, C. Rangel-Escareño, A. Hidalgo-Miranda, A. V. Contreras P47 Whole exome sequence meta-analysis of 13 white blood cell, red blood cell, and platelet traits L. Polfus, CHARGE and NHLBI Exome Sequence Project Working Groups P48 Association of adipoq gene with type 2 diabetes and related phenotypes in african american men and women: The jackson heart study S. Davis, R. Xu, S. Gebeab, P Riestra, A Gaye, R. Khan, J. Wilson, A. Bidulescu P49 Common variants in casr gene are associated with serum calcium levels in koreans S. H. Jung, N. Vinayagamoorthy, S. H. Yim, Y. J. Chung P50 Inference of multiple-wave population admixture by modeling decay of linkage disequilibrium with multiple exponential functions Y. Zhou, S. Xu P51 A Bayesian framework for generalized linear mixed models in genome-wide association studies X. Wang, V. Philip, G. Carter P52 Targeted sequencing approach for the identification of the genetic causes of hereditary hearing impairment A. A. Abuzenadah, M. Gari, R. Turki, A. Dallol P53 Identification of enhancer sequences by ATAC-seq open chromatin profiling A. Uyar, A. Kaygun, S. Zaman, E. Marquez, J. George, D. Ucar P54 Direct enrichment for the rapid preparation of targeted NGS libraries C. L. Hendrickson, A. Emerman, D. Kraushaar, S. Bowman, N. Henig, T. Davis, S. Russello, K. Patel P56 Performance of the Agilent D5000 and High Sensitivity D5000 ScreenTape assays for the Agilent 4200 Tapestation System R. Nitsche, L. Prieto-Lafuente P57 ClinVar: a multi-source archive for variant interpretation M. Landrum, J. Lee, W. Rubinstein, D. Maglott P59 Association of functional variants and protein physical interactions of human MUTY homolog linked with familial adenomatous polyposis and colorectal cancer syndrome Z. Abduljaleel, W. Khan, F. A. Al-Allaf, M. Athar , M. M. Taher, N. Shahzad P60 Modification of the microbiom constitution in the gut using chicken IgY antibodies resulted in a reduction of acute graft-versus-host disease after experimental bone marrow transplantation A. Bouazzaoui, E. Huber, A. Dan, F. A. Al-Allaf, W. Herr, G. Sprotte, J. Köstler, A. Hiergeist, A. Gessner, R. Andreesen, E. Holler P61 Compound heterozygous mutation in the LDLR gene in Saudi patients suffering severe hypercholesterolemia F. Al-Allaf, A. Alashwal, Z. Abduljaleel, M. Taher, A. Bouazzaoui, H. Abalkhail, A. Al-Allaf, R. Bamardadh, M. Atha