Burnout among secondary school teachers in Malaysia Sabah

The purpose of this study was to identify the relationship between burnout among urban and rural secondary school teachers in Sabah. The study involved 114 teachers currently working in five urban secondary schools in Kota Kinabalu district and five rural secondary schools in Kota Belud district, Sabah. This is a quantitative study in the form of a survey with two (2) questionnaires. Part A contains demographic data while the second part B contains 22 Burnout measurement items using the second version of the Burnout Maslach Inventory (MBI) used to collect instrument data. They were then analyzed using descriptive and t-test to compare two groups. The results of this study indicate that aspects of teacher personalization need to be taken into account as this study clearly shows that there are significant differences between teachers in urban and rural areas. The survey data also showed that rural teachers experienced moderate personalization

FOREST COVER CHANGE DETECTION IN PAKTIA PROVINCE OF AFGHANISTAN USING REMOTE SENSING AND GIS: 1998-2018

Monitoring changes in forest cover is important to address issues like biodiversity conservation, sustainable management, and climate change. The study has been conducted in the Paktia province of Afghanistan to assess the changes in different forest classes which occurred together with political changes by using Remote Sensing and Geographic Information System (GIS). The change was analyzed for a period of two decades, i.e., 1998 to 2018. Landsat TM and OLI satellite images of 30m resolution for the years 1998 and 2018 were used respectively. The overall classification accuracy of the mapping was estimated as 82.67% and the kappa coefficient was estimated as 0.8081. The study area was delineated via visual image interpretation technique into 11 LULC classes’ viz., closed forest, open forest, forest scrub, grassland other classes (Agriculture, Agroforestry, horticulture, habitation, waterbody, wasteland, and snow). The comparison of maps 1998 and 2018 revealed that the total area under closed forest, open forest, showed an increase of 0.43%, 0.73%, respectively. While the areas under forest scrub, showed a decline of 0.30%, during the study period (1998-2018)

Performance evaluation of induced mutant lines of black gram (Vigna mungo (L.) Hepper)

Article Details: Received: 2020-01-12      |      Accepted: 2020-03-02      |      Available online: 2020-06-30https://doi.org/10.15414/afz.2020.23.02.70-77 Present investigation was carried out to explore the possibility of inducing genetic variability for yield and yield contributing traits in well-adapted variety PU-19 of black gram (Vigna mungo (L.) Hepper) following mutagenesis with methyl methane sulfonate (MMS), sodium azide (SA) and hydrazine hydrate (HZ). A considerable increase in mean values for fertile branches per plant, pods per plant and total plant yield was noticed among the mutant lines in M4 and M5 generations. Estimates of genotypic coefficient of variation, heritability and genetic advance for yield and yield components were also recorded to be higher compared to control. MMS followed by SA and HZ showed highest mutagenic potential for improving total plant yield of black gram var. PU-19. Treatment concentration 0.3% was found to be most effective in generating significant increase in total plant yield of black gram var. PU-19. The increased genetic variability for yield and yield components indicates the ample scope of selection for superior mutants in subsequent generations due to preponderance of additive gene action.Keywords: black gram, mutagenesis, chemical mutagens, genetic variability, yield componentsReferences AHLOOWALIA, B., MALUSZYNSKI, M. and NICHTERLEIN, K.(2004). Global impacts of mutation derived varieties. Euphytica, 135, 187. ANNUAL REPORT (2016–2017). In: Government of India, Ministry of Agriculture and Farmers Welfare, Department of Agriculture, Cooperation and Farmers Welfare, Directorate of Pulses Development, Vindhyachal Bhavan, India. AUTI, S. G. (2012). Induced morphological and quantitative mutants in mungbean. Biorem. Biodiv. Bioavail., 6 (Special Issue), 27-39. BHATIA, C. R. and SWAMINATHAN, M. S. (1962). Induced polygenic variability in bread wheat and its bearing on selection procedure. Z. Pflanzenzucht., 48, 317–328. DEWANJEE, S. and SARKAR, K. K. (2017). Evaluation of performance of induced mutants in mungbean (Vigna radiata (L.) Wilczek). Legume Res. DOI: https://doi.org/10.18805/lr.v0iOF.9098 GILL, R. K., KUMAR, A., SINGH, I. and TYAGI, V. (2017). Assessment of induced genetic variability in black gram (Vigna mungo (L.)Hepper). J. Food Legumes, 30(2), 31–34.GIRI, S. P., TAMBE, S. B. and APPARAO, B. J. (2010). Induction of a novel, high yielding mutant of pigeon pea. Asian J. Exp. Biol. Sci., (Special Issue), 152–155. GOYAL, S., WANI, M. R. and KHAN, S. (2019). Gamma rays and ethyl methane sulfonate induced early flowering and maturing mutants in urdbean (Vigna mungo (L.) Hepper). Int. J. Bot., 15, 14–21. JOHNSON, H. W., ROBINSON, H. F. and COMSTOCK, R. E. (1955). Estimates of genetic and environmental variability in soybeans. Agron. J., 47, 314–318. KAUL, M. L. H. and GARG, R. (1982). Radiation genetic studies in garden pea. XIII. Genetic variability, interrelationships and path analysis in protein rich genotypes. Biol. Zbl., 101, 271–282.KHAN, S. and WANI, M. R. (2005). Genetic variability and correlations studies in chickpea mutants. J. Cytol. Genet., 6, 155–160. KHAN, S., WANI, M. R. and PARVEEN, K. (2004). Induced genetic variability for quantitative traits in Vigna radiata (L.) Wilczek. Pakistan J. Bot., 36(4), 845–850. LASKAR, R. A. and KHAN, S. (2017). Assessment on induced genetic variability and divergence in the mutagenized lentil populations of microsperma and macrosperma cultivars developed using physical and chemical mutagenesis. PLoS ONE, 12(9), e0184598. LASKAR, R. A., KHAN, H. and KHAN, S. (2015). Chemical Mutagenesis: Theory and Practical Application in Vicia faba L. Lap Lambert Academic Publication, Germany. LASKAR, R. A., KHAN, S., DEB, C. R., TOMLEKOVA, N., WANI, M. R., RAINA, A. and AMIN, R. (2019). Lentil (Lens culinaris Medik.) Diversity, Cytogenetics and Breeding. In: Advances in Plant Breeding Strategies: Cereals and Legumes. (eds.) J. M. Al-Khayri, S. M. Jain and D. V. Johnson. Springer International Publishing, pp. 319–370. LASKAR, R. A., LASKAR, A. A., RAINA, A., KHAN, S. and YOUNUS, H. (2018). Induced mutation analysis using biochemical and molecular characterization of high yielding lentil mutant lines. International Journal of Biological Macromolecules, 109,167–179. MBA, C. (2013). Induced mutations unleash the potentials of plant genetic resources for food and agriculture. Agronomy, 3, 200–231.MOA&FW (2020). Ministry of Agriculture and Farmers Welfare, National Initiative for Information on Quality Seed, India. RAINA, A., KHAN, S., WANI, M. R., LASKAR, R. A. and MUSHTAQ, W. (2019). Chickpea (Cicer arietinum L.) Cytogenetics, Genetic Diversity and Breeding. In: Advances in Plant Breeding Strategies: Cereals and Legumes. (eds.) J. M. Al-Khayri, S. M. Jain and D. V. Johnson. Springer International Publishing, pp. 53–112. RAINA, A., LASKAR, R. A., WANI, M. R., KHURSHEED, S. and KHAN, S. (2020). Characterization of induced high yielding cowpea mutant lines using physiological, biochemical and molecular markers. Scientific Reports, (10), 3687, 1–22. RAUT, V. K., PATIL, J. V. and GAWANDE, V. L. (2004).Correlation and path analysis for quantitative traits in chickpea. Indian J. Pulses Res., 17(1), 82–83. SHU, Q. Y., FORSTER, B. P. and NAKAGAWA, H. (2012). Plant mutation breeding and biotechnology. CABI, WallingfordSIKORA, P. P, CHAWADE, A. A, LARSSON, M., OLSSON, J. and OLSSON, O. (2011). Mutagenesis as a tool in plant genetics, functional genomics and breeding. Int J Plant Genom, 2011, 314829. doi: https://doi.org/10.1155/2011/314829 SINGH, G., SAREEN, P. K., SAHARAN, R. P. and SINGH, A. (2001). Induced variability in mungbean (Vigna radiata (L.) Wilczek). Indian J. Genet., 61(3), 281–282. SINGH, R. K. and CHAUDHARY, B. D. (1985). Biometrical Methods in Quantitative Genetic Analysis. Ludhiana: Kalyani Publishers. TOMLEKOVA, N. B., KOZGAR, M. I. and WANI, M. R. (2014). Mutagenesis-exploring novel genes and pathways. Wageningen Academic Publishers, Netherlands. WAGHMARE, V. N. and MEHRA, R. B. (2000). Induced genetic variability for quantitative characters in grass pea (Lathyrus sativus L.). Indian J. Genet., 60, 81–87. WANI, M. R. (2007). Studies on the induction of mutations in mungbean (Vigna radiata (L.) Wilczek). Ph. D. Thesis. Aligarh: Aligarh Muslim University, India. WANI, M. R. (2018). Early maturing mutants of chickpea (Cicer arietinum L.) induced by chemical mutagens. Indian J. Agric. Sci., 88(4), 635–640

Influence of sowing dates and nitrogen levels on growth, yield and quality of scented rice cv. Pusa Sugandh-3 in Kashmir valley

A field experiment was carried out to determine the optimum sowing date and nitrogen (N) level for the scented rice cv. Pusa Sugandh-3. Twelve treatment combinations of 3 sowing dates, viz., 15th, 16th and 18th standard meteorological week (SMW) at an interval of 10 days and 4 nitrogen levels (‘0’, ‘40’, ‘60’ and ‘80’ kg N ha-1) were tested randomized in split plot design with three replications. Significant highest plant height (98.56 cm), tillers m-2 (333.41), dry matter (98.38 q ha-1), panicles m-2 (310.05), spikelets panicle-1(130.25) and grains panicle-1 (98.55), grain yield (45.2 q ha-1), harvest index (41.20 %), head rice recovery (47.5 %) and B:C ratio (3.03) were recorded for the early sown 15th SMW crop. Among the different nitrogen levels tested significant highest plant height (98.12 cm), tillers m-2 (342.33) dry matter (100.68 q ha-1), panicles m-2 (321.83), spikelets panicle-1(132.83) grains panicle-1 (96.79), grain yield (48.0 q ha-1), harvest index (42.68 %), head rice recovery (44.54 %) and B:C ratio (3.38) were recorded with the application of 80 kg N ha-1.Therefore, the variety, Pusa Sugandh-3 should be sown earlier in season from 15th to 16th SMW and with nitrogen application of 60-80 kg N ha-1 for realizing economically higher grain yield and profit under the temperate climatic conditions of Kashmir valley

Loneliness, social anxiety, social influence and addiction that contributes to online social networking: A study among adolescent in Malaysia

The present study aimed to identify the contribution of loneliness, social anxiety, social influence and addiction on online social networking. In the study 220 students from different seven schools in Johor Bahru district of Malaysia were taken as sample. The obtained data was statistically analyzed by descriptive statistics through SPSS 17 version. Results demonstrated that social influence is an influential variable and has great contribution on online social networking. Further the study also revealed that loneliness was found to be the weakest factor in online social networking

Influence of Aggressive Media and Its Effect on Student Behaviour

This study aimed to find the influence of aggressive media and its effect on student’s behaviour. The study consists 127 students (92 male & 35 female) with problematic discipline from three secondary schools in Kulai District, Johor. The instrument used in the study was a set of questionnaires divided into two parts. Part A is used to look at the background of respondents, whereas section B is used to answer all four research questions. Questionnaire items were measured using a five-step scale. The data obtained were processed using the SPSS 17.0 version to evaluate the percentage of frequency, mean, t-test and correlation test. A pilot study was conducted by the researcher to measure the reliability of the questions in the questionnaire. The findings reported moderate impact of aggressive media on student’s behaviours. Findings for the effects of students' aggressive behaviour are also moderate. This study has important implications on the role of the media in reevaluating broadcast programs in order to minimize aggressive elements that may cause students to act aggressively

Implications of risk conferred by 5p15.33 loci genetic variants; human telomerase reverse transcriptase rs2736098 and rs2736100 in predisposition of bladder cancer

Background: The polymorphic variations of human telomerase reverse transcriptase (hTERT) gene play an important role in predisposition to carcinogenesis. The current study aimed to elucidate the genetic predisposition to bladder cancer in two important variants, rs2736098 and rs2736100 of hTERT gene. Materials and methods: Confirmed 130 patients of bladder cancer and 200 healthy controls were genotyped by PCR-RFLP to determine different variants of hTERT rs2736098 and rs2736100. Results: hTERT rs2736098 homozygous variant AA genotype frequency was observed to significantly differ 2-fold between cases and controls (26.15% vs. 13.5%) (p = 0.02). In addition, rare ‘A’ allele significantly differed among two groups (cases: 47% versus controls: 39%: p = 0.03). hTERT rs2736098 was observed to be presented significantly more in high stage tumors (p = 0.02). hTERT rs2736100 genotype AA or variant allele A showed no significant difference between cases and controls. Haplotype CA displayed significantly different pattern of frequency as 0.5 in cases as compared to 0.16 in controls (p < 0.0001). Combination of variant A/G haplotype frequency implicated more in cases than in controls (0.34 vs. 0.16, p = 0.001). Conclusions: It is concluded that hTERT rs2736098 polymorphic variant has a vital role to confer a strong risk to bladder cancer in our population. Further, hTERT haplotypes CA and AG inhTERT could prove to be a promising tool to screen the risk for bladder cancer

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

The impact of surgical delay on resectability of colorectal cancer: An international prospective cohort study

AIM: The SARS-CoV-2 pandemic has provided a unique opportunity to explore the impact of surgical delays on cancer resectability. This study aimed to compare resectability for colorectal cancer patients undergoing delayed versus non-delayed surgery. METHODS: This was an international prospective cohort study of consecutive colorectal cancer patients with a decision for curative surgery (January-April 2020). Surgical delay was defined as an operation taking place more than 4 weeks after treatment decision, in a patient who did not receive neoadjuvant therapy. A subgroup analysis explored the effects of delay in elective patients only. The impact of longer delays was explored in a sensitivity analysis. The primary outcome was complete resection, defined as curative resection with an R0 margin. RESULTS: Overall, 5453 patients from 304 hospitals in 47 countries were included, of whom 6.6% (358/5453) did not receive their planned operation. Of the 4304 operated patients without neoadjuvant therapy, 40.5% (1744/4304) were delayed beyond 4 weeks. Delayed patients were more likely to be older, men, more comorbid, have higher body mass index and have rectal cancer and early stage disease. Delayed patients had higher unadjusted rates of complete resection (93.7% vs. 91.9%, P = 0.032) and lower rates of emergency surgery (4.5% vs. 22.5%, P < 0.001). After adjustment, delay was not associated with a lower rate of complete resection (OR 1.18, 95% CI 0.90-1.55, P = 0.224), which was consistent in elective patients only (OR 0.94, 95% CI 0.69-1.27, P = 0.672). Longer delays were not associated with poorer outcomes. CONCLUSION: One in 15 colorectal cancer patients did not receive their planned operation during the first wave of COVID-19. Surgical delay did not appear to compromise resectability, raising the hypothesis that any reduction in long-term survival attributable to delays is likely to be due to micro-metastatic disease