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Volume 10 Supplement 1

Human Genome Meeting 2016

Human genome meeting 2016

Houston, TX, USA. 28 February - 2 March 2016

Table of contents

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

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder

A. K. Srivastava1, Y. Wang2,