RNA-Seq Presentations at ASHG 2014

RNA-SEQ

Abstract/Presentation Information
Title: Microbiome profiling in whole blood using RNA-seq reveals disease-specific patterns.(1333S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): S. Mangul, A. P. Ori, K. A. Staats, L. M. Olde Loohuis, G. Jospin, J. A. Eisen, E. Eskin, R. A. Ophoff
Keywords: Psychiatric Genetics, Neurogenetics and Neurodegeneration, KW008 – bioinformatics, KW011 – brain/nervous system, KW124 – neurogenetics
Title: Accurate estimation of transcript isoform expression from RNA-Seq data by improved variational Bayesian inference.(1395S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): N. Nariai, K. Kojima, T. Mimori, Y. Sato, Y. Kawai, Y. Yamaguchi-Kabata, M. Nagasaki
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW170 – transcription, KW156 – RNA, KW080 – genome sequencing, KW103 – massively parallel sequencing
Title: Biomarker Discovery From RNA-seq Data Using a Biologist-Friendly Analysis Platform.(1491S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): B. Lee, D. Kearns, D. Bailey, T. M. Lowe, P. Chan
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW031 – computational tools, KW156 – RNA, KW170 – transcription, KW103 – massively parallel sequencing
Title: Identification of recurrent drive gene fusions in melanoma using RNA-Seq data.(1545S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): T. Zhang, M. Xu, P. Johansson, A. Pritchard, N. K. Hayward, K. M. Brown
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW012 – cancer, KW025 – chromosomal structure/function, KW169 – therapy, KW170 – transcription
Title: lincRNA-mRNA transcriptional regulatory co-expression network from RNA-seq data in 624 Sardinian individuals.(1851S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): P. Forabosco, M. Pala, M. Marongiu, A. Mulas, R. Cusano, F. Crobu, F. Reinier, R. Berutti, M. G. Piras, C. Jones, D. Schlessinger, G. Abecasis, A. Angius, S. Sanna, S. B. Montgomery, F. Cucca
Keywords: Statistical Genetics and Genetic Epidemiology, KW008 – bioinformatics, KW126 – noncoding RNA, KW170 – transcription, KW165 – systems biology, KW156 – RNA
Title: RNA-seq analysis of endogenous retroviral elements in bovine conceptuses during the period of placentation.(1923S) (4:00PM-5:00PM on Sun) (Poster)
Author(s): S. Nakagawa, T. Miyazawa, T. Gojobori, K. Imakawa
Keywords: Evolutionary and Population Genetics, KW175 – transposable elements, KW083 – genomic structure, KW056 – evolution, KW008 – bioinformatics, KW068 – gene families
Title: Understanding cellular heterogeneity of pancreatic islets of Langerhans using single-cell RNA-seq.(556S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): M. Garieri, C. Borel, F. A. Santoni, C. Howald, P. Ribaux, P. A. Halban, S. E. Antonarakis, E. T. Dermitzakis
Keywords: Genome structure, variation and function, KW041 – diabetes, KW156 – RNA
Title: Viral RNA detection with RNA-Seq using capture technology.(568S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): S. M. Gross, I. Khrebtukova, L. C. Watson, F. Schlesinger, S. Pathak, R. Kelley, T. Hill, T. Singer, G. P. Schroth
Keywords: Genome structure, variation and function, KW180 – viral vectors, KW156 – RNA, KW090 – infectious disease, KW049 – epidemiology, KW031 – computational tools
Title: Transcriptome analysis of differentially expressed isoforms in hypertrophied cardiomyocytes derived from human iPSCs using RNA-Seq.(922S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): W. Li, P. Aggarwal, A. Turner, A. Matter, U. Broeckel
Keywords: Complex Traits and Polygenic Disorders, KW036 – CVD, KW162 – stem cell(s), KW115 – molecular pathophysiology, KW004 – alternative splicing, KW008 – bioinformatics
Title: A new GATK framework for RNA-seq variant discovery identifies differential A-to-I RNA editing in autistic brains.(1054S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): A. Eran, A. Levy-Moonshine, R. Anner, N. Milo, E. Bachmat, R. Zhang, J. B. LI, D. M. Margulies, L. M. Kunkel, I. S. Kohane
Keywords: Complex Traits and Polygenic Disorders, KW125 – nervous system, KW082 – genomic methodologies, KW156 – RNA, KW040 – development, KW103 – massively parallel sequencing
Title: Event-level quantification of alternate splicing using junction reads identifies new splicing QTLs in RNA-seq data from 1000 Genomes Project samples.(1362S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): T. Bhangale, L. Goldstein, B. Friedman, R. Gentleman, T. Wu, (TB and LG: equal contribution)
Keywords: Bioinformatics and Genomic Technology, KW004 – alternative splicing, KW031 – computational tools, KW081 – genome-wide association, KW161 – splicing mechanisms, KW109 – methodology
Title: Using RNA-Seq to improve sensitivity/specificity of CNV calls made from whole-exome sequencing data.(1374S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): R. Golhar, J. Glessner, E. Liu, H. Hakonarson
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW034 – copy number/structural variation, KW044 – digital gene expression, KW087 – identification of disease genes, KW031 – computational tools
Title: Genome and Transcriptome Free Analysis of RNA-Seq Data (GT-FAR) using cloud computing.(1410S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): T. Souaiaia, K. Vahi, R. Mayani, J. Herstein, O. Evagrafov, T. Chen, E. Deelman, J. Knowles
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW031 – computational tools, KW103 – massively parallel sequencing, KW106 – mathematical modeling
Title: Integrative genomic analysis of exome and RNA-seq data from multiple tissue sources obtained from a single breast cancer patient.(1650S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): A. Vladimirova, R. Goold, S. Sanga, T. Klingler
Keywords: Bioinformatics and Genomic Technology, KW012 – cancer, KW031 – computational tools, KW160 – SNP analysis/discovery, KW008 – bioinformatics, KW087 – identification of disease genes
Title: A Combined Exome sequencing and RNA-Seq Strategy Reveals a Novel Mutation in DOCK8 that Results in Immunodeficiency and Radiosensitivity.(2956S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): S. Khan, M. Kuruvillas, B. Wakeland, C. Liang, K. Vishwanathan, R. Gatti, T. Torgersen, N. van Oers, E. Wakeland, M. Teresa de la Morena
Keywords: Molecular Basis of Mendelian Disorders, KW080 – genome sequencing, KW087 – identification of disease genes, KW088 – immune system, KW103 – massively parallel sequencing
Title: RNA-Seq to identify novel markers for neural tissue differentiation.(3136S) (5:00PM-6:00PM on Sun) (Poster)
Author(s): Y. Sun, K. Giorda, E. Frey, M. Taylor, T. Barron, C. Davidson, D. Piper, G. Meredith
Keywords: Development, KW103 – massively parallel sequencing, KW170 – transcription, KW162 – stem cell(s), KW072 – genes in development, KW043 – differentiation
Title: Multi-sample isoform quantification from RNA-seq.(160) (11:00AM-11:15AM on Mon) (Platform)
Author(s): A. E. Byrnes, J. B. Maller, A. R. Sanders, J. Nemesh, T. Sullivan, H. H. Göring, J. Duan, W. Moy, E. I. Drigalenko, P. V. Gejman, B. M. Neale
Keywords: Bioinformatics and Genomic Technology, KW031 – computational tools, KW106 – mathematical modeling, KW156 – RNA, KW170 – transcription, KW163 – structure/function
Title: Very Low Input RNA-Seq is Enabled by Digital Microfluidics.(1711M) (2:00PM-3:00PM on Mon) (Poster)
Author(s): T. M. Hill, L. C. Watson, S. M. Gross, I. Khrebtukova, F. Schlesinger, S. Pathak, T. Singer, G. P. Schroth
Keywords: Bioinformatics and Genomic Technology, KW156 – RNA, KW170 – transcription, KW152 – regulation of transcription, KW109 – methodology, KW044 – digital gene expression
Title: Allele-specific gene expression analysis of RNA-seq data in 471 healthy prostate tissue samples identifies extensive aseQTLs in the human prostate transcriptome.(530M) (3:00PM-4:00PM on Mon) (Poster)
Author(s): N. B. Larson, S. McDonnell, A. J. French, Z. Fogarty, J. Cheville, S. Middha, S. Riska, S. Baheti, A. A. Nair, L. Wang, J. Cunningham, D. Schaid, S. N. Thibodeau
Keywords: Genome structure, variation and function, KW152 – regulation of transcription, KW103 – massively parallel sequencing, KW044 – digital gene expression, KW160 – SNP analysis/discovery, KW156 – RNA
Title: Sparse functional graphical model for joint analysis of RNA-seq and DNA sequencing data.(1420M) (3:00PM-4:00PM on Mon) (Poster)
Author(s): P. Wang, S. Guo, L. Jin, M. Xiong
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW165 – systems biology, KW044 – digital gene expression, KW082 – genomic methodologies, KW012 – cancer
Title: Single Cell RNA-Seq analysis of Tumor Composition.(1498M) (3:00PM-4:00PM on Mon) (Poster)
Author(s): I. Ragoussis, Y.-C. Wang, E. Iacucci, L. Letourneau, P. Savage, A. Monast, N. Bertos, A. Omeroglou, M. Park
Keywords: Bioinformatics and Genomic Technology, KW012 – cancer, KW082 – genomic methodologies, KW127 – oncogenesis, KW008 – bioinformatics, KW109 – methodology
Title: Lower Cost, Higher Throughput Library Preparation with the Echo liquid handler® and the NuGEN Ovation® Single Cell RNA-Seq System.(1690M) (3:00PM-4:00PM on Mon) (Poster)
Author(s): J. D. Lesnick, J. D. Heath
Keywords: Bioinformatics and Genomic Technology, KW080 – genome sequencing, KW118 – mutation detection, KW170 – transcription, KW156 – RNA, KW004 – alternative splicing
Title: Analysis of the Genetic Variation and Age Effects on Gene Expression Using RNA-seq Data from Multiple Tissues.(281) (11:00AM-11:15AM on Tue) (Platform)
Author(s): A. Viñuela, A. A. Brown, A. Buil, M. N. Davies, P. Tsai, J. T. Bell, K. S. Small, E. T. Dermitzakis, R. Durbin, T. D. Spector
Keywords: Genome structure, variation and function, KW067 – gene environment interaction, KW110 – methylation, KW170 – transcription, KW152 – regulation of transcription, KW101 – mapping complex traits
Title: RNA-seq analysis reveals potential link between mammalian mitochondrial fatty acid synthesis (mtFAS II), RNA processing, and neurodegeneration.(1305T) (2:00PM-3:00PM on Tue) (Poster)
Author(s): S. L. Mitchell, A. Parl, S. D. Turner, D. C. Crawford, D. G. Murdock
Keywords: Psychiatric Genetics, Neurogenetics and Neurodegeneration, KW113 – mitochondria, KW123 – neurodegeneration, KW126 – noncoding RNA, KW152 – regulation of transcription, KW157 – RNAi
Title: Variant Detection and Validation in RNA-Seq Data.(1607T) (2:00PM-3:00PM on Tue) (Poster)
Author(s): F. Schlesinger, I. Khrebtukova, L. C. Watson, S. M. Gross, S. Pathak, T. Singer, T. Hill, G. P. Schroth, R. Kelley
Keywords: Bioinformatics and Genomic Technology, KW160 – SNP analysis/discovery, KW156 – RNA, KW080 – genome sequencing
Title: A comprehensive comparison of RNA-seq and microarray in transcriptome profiling of rat livers exposed to a broad range of agents.(1613T) (2:00PM-3:00PM on Tue) (Poster)
Author(s): C. Wang, B. Gong, P. R. Bushel, J. Thierry-Mieg, D. Thierry-Mieg, J. Xu, H. Fang, H. Hong, L. J. Lancashire, C. Furlanello, L. Shi, R. S. Paules, S. Auerbach, W. Tong
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW080 – genome sequencing, KW103 – massively parallel sequencing, KW111 – microarrays, KW165 – systems biology
Title: RNA-Seq revealed canonical RNA editing in mouse retina with laser-induced choroidal neovascularization.(502T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): J. Chen, S. Huang, J. Liang, Z. Lu, C. Pang, M. Zhang, H. Chen
Keywords: Epigenetics, KW110 – methylation, KW179 – visual systems, KW015 – candidate gene, KW042 – diagnostics
Title: Modeling uncertainty in RNA-seq analysis: Beyond differential expression.(666T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): G. E. Hoffman, B. A. Kidd, E. E. Schadt
Keywords: Genome structure, variation and function, KW156 – RNA, KW044 – digital gene expression, KW170 – transcription, KW008 – bioinformatics, KW165 – systems biology
Title: A comprehensive and highly accurate RNA-Seq pipeline using a hybrid sequencing and algorithm approach.(1478T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): P. T. Afshar, G. Gibeling, M. Mohiyuddin, R. Sebra, A. Sethi, L. T. Fang, J. C. Mu, H. Tilgner, N. Bani Asadi, M. B. Gerstein, M. Snyder, E. Schadt, W. H. Wong, K. F. Au, H. Y. K. Lam
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW048 – embryonic stem cells, KW012 – cancer
Title: LNCScore: a machine-learning approach for novel lncRNA discovery from RNA-Seq data.(1490T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): J. H. Kim, O. Evgrafov, J. Knowles, K. Wang
Keywords: Bioinformatics and Genomic Technology, KW008 – bioinformatics, KW031 – computational tools, KW044 – digital gene expression, KW126 – noncoding RNA
Title: Gene variant modification in keratinocyte cell samples irradiated by UV using RNA-seq.(1562T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): V. Mijatovic, C. Patuzzo, G. Buson, A. Dal Molin, A. Mori, E. Caviola, M. Delledonne, P. Pertile, P. F. Pignatti, G. Malerba
Keywords: Bioinformatics and Genomic Technology, KW160 – SNP analysis/discovery, KW156 – RNA, KW080 – genome sequencing, KW073 – genetic diversity, KW012 – cancer
Title: Analysis of PCR duplicates and Library Diversity in RNA-Seq studies using very low input and degraded samples.(1712T) (3:00PM-4:00PM on Tue) (Poster)
Author(s): S. Pathak, I. Khrebtukova, S. Gross, F. Schlesinger, T. Hill, L. Watson, R. Kelley, T. Singer, G. Schroth
Keywords: Bioinformatics and Genomic Technology, KW156 – RNA, KW008 – bioinformatics, KW031 – computational tools