Human genome meeting 2016

Abstract

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. Athar

DOI: 10.1186/s40246-016-0063-5

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@inproceedings{Srivastava2016HumanGM, title={Human genome meeting 2016}, author={Ashish K. Srivastava and Y. Wang and R. Huang and Chris Skinner and Timothy Thompson and Lee Pollard and Terri Wood and F. Luo and Rob P. Stevenson and Renato Polimanti and J. Gelernter and X. Lin and Ilgye Lim and Y. Wu and Ai Ling Teh and L. Chen and Izzudin Mohd Aris and Shu E. Soh and M-T Tint and Julia L. MacIsaac and Florence Yap and Kenneth Kwek and S. M. Saw and Michael S. Kobor and Michael J. Meaney and Keith M. Godfrey and Y-S. Chong and Joanna D. Holbrook and Y. S. Lee and Peter D. Gluckman and Neerja Karnani and Ajai Kapoor and D. Lee and Aravinda Chakravarti and Christian Maercker and Fabian Graf and Michael Boutros and Georgios Stamoulis and Federico Santoni and Periklis Makrythanasis and Alain Letourneau and Michel Guipponi and Nikolaos I. Panousis and Marco Garieri and Pascale G Ribaux and Emilie Falconnet and Christelle Borel and Stylianos E. Antonarakis and Sanjeev Kumar and J. E. Curran and John Blangero and Shami Chatterjee and Jin Akiyama and Dominik Auer and Courtney Berrios and Len A. Pennacchio and Taraka R. Donti and Gerarda Cappuccio and Mark Allen Miller and Pradeep Atwal and Allan Kennedy and Annabelle Cardon and Carlos A Bacino and Lisa T. Emrick and Joseph Hertecant and Fiona M. Baumer and B. Porter and Matthew N. Bainbridge and Penelope E. Bonnen and Bryan Graham and Reid V. Sutton and Q. Sun and Sarah H Elsea and Z. Hu and Ping Wang and Y. Zhu and J. Zhao and M. Xiong and David A. Bennett and Alfredo Hidalgo-Miranda and Sandra Lorena Romero-C{\'o}rdoba and Sergio Arturo Rodr{\'i}guez-Cuevas and Rosa Rebollar-Vega and Emma Tagliabue and Maria Iorio and Elvira D’Ippolito and Suzymeire Baroni and Bogumil Kaczkowski and Y. Tanaka and Hideya Kawaji and Albin Sandelin and Robin Andersson and Mitsuyasu Itoh and Timo Lassmann and Yoshihide Hayashizaki and Piero Carninci and Alistair R R Forrest and Colin A Semple and Elisabeth A. Rosenthal and Brian H. Shirts and Laura M Amendola and CJ Gallego and Martha J Horike-Pyne and AGNES BURT and Philip A. Robertson and P. Beyers and C. Nefcy and David L. Veenstra and Fuki M Hisama and Ryan Bennett and Michael Dorschner and Debbie Nickerson and J. Smith and Kathryn Patterson and DR Crosslin and Rami Nassir and Nasir Zubair and Terrence Harrison and Usha Peters and Gail P. Jarvik and Francesca Menghi and Koichiro Inaki and Xing-Yi Woo and P. Kumar and Krzysztof Grzeda and A. M. Malhotra and H. Kim and Duygu Ucar and Phung Trang Shreckengast and Krishna M. Karuturi and J. Keck and Jia-Ling Chuang and Edison T. Liu and Bo Ji and Albert Tyler and Guruprasad Ananda and Gary Carter and Hamid Nikbakht and Martin Montagne and Michele Zeinieh and Avet Harutyunyan and Melissa K. McConechy and Nada Jabado and Pascal Lavigne and Jacek Majewski and Jessica B Goldstein and Muriel Overman and Gauri R. Varadhachary and Robert Shroff and R. Wolff and Milind M. Javle and Andy Futreal and David R Fogelman and Leny Bravo and Williams Fajardo and Haley L. Gomez and Candelario Castaneda and Christian Rolfo and Jamilly Amaral Pinto and Kadir Caner Akdemir and Lee-Fang Chin and Sybil Patterson and Cara M. Statz and Susan Mockus and S. N. Nikolaev and Ximena Bonilla and Laurent Parmentier and Bryan H. King and Fedor Bezrukov and Guerkan Kaya and Vincent Zoete and Vladimir B. Seplyarskiy and Hilary Sharpe and Thomas A. Mckee and Konstantin Yu Popadin and Nicole Basset-S{\'e}guin and R. Ben Chaabene and M. Yu. Andrianova and Carole Verdan and Kerstin Grosdemange and Olga Sumara and Martin Eilers and Iannis Aifantis and Olivier Michielin and Fredric de Sauvage and Somsak Likhitrattanapisal and Susan Lincoln and Albin Kurian and Andrea J Desmond and S. Yang and Yutaka Kobayashi and Joe Ford and Leif William Ellisen and Tricia L. Peters and Kellean Alvarez and Emporia Faith Hollingsworth and Dolores H L{\'o}pez-Terrada and Annette Hastie and Željko D{\vz}akula and Arthur W Pang and Ernest T. Lam and Thomas Anantharaman and Michael Saghbini and H. Cao and Claudia G Gonzaga-Jauregui and L. Ma and Anthony King and Erika S Berman Rosenzweig and Udhay Krishnan and Jill Reid and John D. Overton and F C Dewey and W. K. Chung and Katja Small and Arthur DeLuca and Frank Cremers and Roger A. Lewis and Virginie Puech and Benjamin B. Bakall and Rosemary Silva-Garcia and Klaus Rohrschneider and Monique J. J. Leys and Fadi S Shaya and Erica Stone and Nara Lygia de Macena Sobreira and François Schiettecatte and Haoshu Ling and Eric Pugh and David Witmer and Kelly Hetrick and P. Zhang and KF Doheny and David Valle and Ada Hamosh and Shalini N. Jhangiani and Zeynep Hande Coban Akdemir and Wu-Lin Charng and Witold Wiszniewski and Tomek Gambin and Ender Karaca and Yavuz Bayram and Mohammad K. Eldomery and Julie Posey and Harshavardhan Doddapaneni and J. Hu and Vivien R. Sutton and Donna M. Muzny and Eric Boerwinkle and James R Lupski and Richard A. Gibbs and Sandhya Shekar and William J. Salerno and Adam C. English and Adina Mangubat and Jeremy Bruestle and Adrian Thorogood and Bartha M. Knoppers and Hiroshi Takahashi and Koushi Nitta and Ana Kozhuharova and Ana Maria Suzuki and HN Sharma and Diego Cotella and Caterina Santoro and Silvia Zucchelli and Stefano Gustincich and John J. Mulvihill and Gareth Baynam and William A Gahl and Stephen C Groft and Kenjiro Kosaki and Paul Lasko and B{\'e}la Melegh and Domenica Taruscio and Ripul Ghosh and Sharon E. Plon and Steven E. Scherer and Xiangjun Qin and Rajkamal Sanghvi and Kim Walker and Theodore Chiang and L. Wang and Jodi Black and Richard M. Weinshilboum and Tatiana V. Karpinets and Tiffany L Calderone and Khalida M. Wani and X. Yu and Caitlin Creasy and Cara Haymaker and Marie-Andr{\'e}e Forget and Vikram K. Nanda and Jason Roszik and Jeffrey Wargo and Lauren E. Haydu and X. Song and Avivit Lazar and Jeffrey E Gershenwald and Melanie J Davies and Chantale Bernatchez and Juan Zhang and Scott E. Woodman and Elissa J Chesler and Travis Reynolds and Jason A. Bubier and Chris John Phillips and Michael A. Langston and Erich J. Baker and Na Lin and Christopher Amos and Vincent D. Calhoun and Otto Dobretsberger and Matthias Egger and F. Leimgruber and Simon P. Sadedin and Alicia Oshlack and Vitarelli. Antonio and Nobukazu Ono and ZEKI AHMED and Mohan T. Bolisetty and Syed Muhammad Zeeshan and Esperanza Anguiano and Avranil Sarkar and Madhusudan R Nandineni and Chaoting Zeng and J. Shao and Tiffany Y. Liang and Khac Linh Pham and Y. Chee-Wei and Lin Dongsheng and W. Lai-Ping and Dana Lian and R. O. Twee Hee and Yushima Yunus and Farhang A. Aghakhanian and Siti Shuhada Mokhtar and C. V. Lok-Yung and Jong Bhak and Martin Phipps and Xiao Shuhua and Teo Yik-Ying and V. Kumar and Hoh Boon-Peng and IL Campbell and Meg Young and Porsha M James and Marina Rain and GHOFRANI Mohammad and Ritushree Kukreti and Qadar M A Pasha and Ainur R. Akilzhanova and Christian Guelly and Zhannur Abilova and Saule E. Rakhimova and Alma Akhmetova and Ulykbek Kairov and Slave Trajanoski and Zhaxybay Sh Zhumadilov and Makhabbat Bekbossynova and Cody Schumacher and Sarina Sandhu and Timothy T. Harkins and V. Makarov and Rob Glenn and Zeineen Momin and B. Dilrukshi and Hsu Chao and Q. Meng and B. Gudenkauf and R. Kshitij and John Jayaseelan and C. Nessner and S. Lee and K. Blankenberg and L. Lewis and Y. Han and Hy Dinh and S. Jireh and Caroline Buhay and X. Liu and Q. Wang and Y. Ding and Narayanan Veeraraghavan and Y. Yang and Arthur L. Beaudet and Christine M. Eng and Kim Worley and Yi Liu and Daniel S. T. Hughes and Shwetha Canchi Murali and R Adron Harris and Oliver A. Hampton and processes Larsen and Christopher A . Beck and M. Wang and Christie L . Kovar and Amy Yoder and Seth O. Richards and Joe Rogers and M. Raveenedran and Cun-Yi Xue and Mike Dahdouli and Loren Cox and Guo-cheng Fan and Betsy Ferguson and J. Hovarth and ZANETA JOHNSON and S Kanthaswamy and Matthias Kubisch and Mary-Jane Platt and Dennis J. Smith and Eric J. Vallender and R. T. Wiseman and Jennifer E. Below and Fang Yu and J. Lin and Y. Zhang and Zexiang Ouyang and Allison Leigh Moore and Z. Wang and Jan Hofmann and Mark P H Purdue and Rachael Z. Stolzenberg-Solomon and Shmuel J. Weinstein and Demetrios Albanes and Chang Song Liu and Wai Lok Cheng and Tsung-Hsinh Lin and Quanxue Lan and Naomi Rothman and Sabrina Berndt and Ee Sin Chen and Hamzeh Bahrami and Ahad Khoshzaban and S. Heidari Keshal and Khalid Khalaf Alharbi and M. Zhalbinova and Mahabbat Bekbosynova and S. Myrzakhmetova and Mohammed Matar and Nitashree Mili and Rosanna Molinari and Y. Ma and Simon Guerrier and N. Elhawary and Md. Tayeb and Neda M. Bogari and N. Qotb and Sarah A. McClymont and Paul W. Hook and Loyal A . Goff and Andy McCallion and Yu-Chien Kong and Jeremy R. Charette and Wendy L. Hicks and J{\"{u}rgen K Naggert and L. Zhao and Patsy M. Nishina and Burhan Mohammed B Edrees and Mohammed Athar}, booktitle={Human Genomics}, year={2016} }