ASHG 2013 Starts Today at Boston. What to Look For at ASHG 2013?

ASHG 2013, the biggest genetics/genomics meeting of the year, kicks off later in the evening at Boston today.  ASHG has completed the metamorphasis in to human genomics meeting with a lot of focus on using Next-Gen Sequencing as the key tool for human genetics.

What difference a year has made to the sequencing industry? Last year, Life Technologies vowed to take the top spot in sequencing industry, but it is acquired by Thermo Fisher.  Roche announced that it will be shutting down 454 sequencing business next year.  PacBio signed up a deal with Roche to fulfill its needs in diagnostic space and is poised to gain from these changes.  Illumina is doing great and it just announced a great quarterly results and it became the official partner for Genomic England to sequence 1000’s of British genomes. Last year, Oxford Nanopore made a big splash at ASHG by showing prototypes of MinION and GridION.  The biggest news from Nanopore is that Clive G. Brown, chief technologist from Oxford Nanopore created twitter account to tweet if nanopore has to make any big announcement. Will it surprise everyone at this year’s ASHG with product announcements?

[Update:] Pacbio announced that it is releasing long-read shotgun sequencing of a human genome with average read length of ~9000 bases.

Turning attention on science at ASHG 2013, the schedule has lined up a lot interesting science at both platform and poster sessions.  Just happened to count the number of posters to be presented at ASHG 2013. ASHH 2013 will show off mindboggling 3000 posters in the next 3/4 days.  Check out all the poster titles/abstracts from

ASHG 2013 has over 400 platform presentations. Here is a partial (but fully biased) list of interesting talks to attend or follow on twitter.

Tuesday: 22 October 2013

6:40 PM Insights into population history from a high coverage Neandertal genome. D. Reich, Neandertal Genome Consortium.

Wednesday: 23 October 2013

9:00 AM   Using networks, functional genomics resources and signals of selection to understand hundreds of complex disease loci. J. Barrett. Wellcome Trust Sanger Inst., Hinxton, U.K

9:00 AM   Whole genome mapping, assembly and analysis. H. Li. Broad Inst. of Harvard and MIT.

9:30 AM   Population genetic insights from 10,000s of human samples. J. Novembre. Univ. of Chicago.

9:30 AM: What we’ve got here is failure to communicate: The growing disconnect between 20th-century research protections and individual agency in an age of whole-genome sequencing. M. Angrist. Duke Inst. for Genome Sciences & Policy.

9:30 AM   Online genetic education and counseling — Lessons from a direct-access genotyping service. U. Francke. 23andMe Inc., Mountain View, CA.

34/2:00 Epistasis is widespread in the genetic control of transcription in humans. J. Powell, G. Hemani, K. Shakhbazov, A. Henders, A. McRae, N. Martin, G. Montgomery, P. Visscher.

70/2:00 Large-scale parent-child trio sequencing highlights factors influencing spontaneous human mutation. S. Sunyaev, P. Polak, L. Francioli, W. Kloosterman, P. I. W. de Bakker, Genome of Netherlands (GoNL) Consortium.

26/2:15 Mixed model association methods: Advantages and pitfalls. A. Price, J. Yang, N. A. Zaitlen, M. E. Goddard, P. M. Visscher.

38/3:00 Multi-tissue eQTL and pathway analysis of genome-wide genetic association data helps uncover tissue-specific processes of complex disease. A. V. Segrè, E. R. Gamazon, D. S. DeLuca, Y. Meng, L. D. Ward, T. Lappalainen, T. Flutre, X. Wen, E. T. Dermitzakis, M. Kellis, D. L. Nicolae, N. Cox, D. G. MacArthur, K. Ardlie, G. Getz, GTEx Consortium.

39/3:15 High-resolution functional analysis of eQTLs in multiple tissues. X. Wen, R. Pique-Regi, T. Flutre, G. Moyerbrailean, F. Luca.

40/3:30 Network QTLs: A new methodology for multi-tissue eQTL discovery. B. Iriarte, M. Kellis, L. Ward, GTEx Consortium.

4:00 PM: Phased allele-specific expression analysis in integrated whole exome and mRNA sequencing study in a family with non-random X chromosome inactivation. S. Szelinger, V. Narayanan, J. J. Corneveaux, I. Schrauwen, A. L. Siniard, A. A. Kurdoglu, I. Malenica, K. M. Ramsey, M. J. Huentelman, D. W. Craig.

Thursday 24 October 2013

97/8:00 Frequency uniqueness score: Predicting the disease risk of coding variants. A. C. Alexander, B. E. Engelhardt.

99/8:30 Integrative annotation of variants from 1,092 humans: Application to cancer genomics. E. Khurana, M. Gerstein, Functional Interpretation Group of 1000 Genomes Consortium.

101/9:00 Computational prediction and in vivo validation of suppressors of human disease mutations. D. M. Jordan, E. E. Davis, N. Katsanis, S. R. Sunyaev.

103/9:30 Understanding molecular mechanisms of human disease mutations and coding variants through 3D protein networks. H. Yu, J. Das, Y. Guo, X. Wei, X. Wang, B. Thijssen, A. Grimson, S. M. Lipkin, A. G. Clark.

105/10:00 Integrated analysis of protein-coding variation in over 50,000 individuals. M. Lek, D. G. MacArthur, A. Levy Moonshine, M. Rivas, S. Purcell, P. Sullivan, S. Kathiresan, M. I. McCarthy, M. Boehnke, S. Gabriel, D. M. Altshuler, G. Getz, M. J. Daly, M. A. DePristo, Exome Aggregation Consortium.

24/8:00 Interpreting eQTLs by linking enhancers to target genes. J. Wang, A. Kundaje, L. D. Ward, M. Kellis, GTEx Consortium and Roadmap Epigenomics Program.

125/8:15 Genetic architecture of regulatory variation influencing response to human rhinovirus infection. M. Caliskan, Y. Gilad, C. Ober.

126/8:30 Genome-wide association of expression response of primary immune cells identifies novel cis and trans loci specific to distinct pathogen responses. C. Ye, M. Lee, A. C. Villani, T. Raj, W. Li, T. M. Eisenhaure, S. H. Imboywa, P. I. Chipendo, K. Rothamel, K. Raddassi, M. H. Lee, I. Wood, C. McCabe, B. E. Stranger, C. O. Benoist, P. L. De Jager, A. Regev, N. Hacohen, Immunological Variation Consortium.

127/8:45 Expression QTL analysis from primary immune cells of a multi-ethnic cohort identifies novel disease-causing regulatory effects. B. E. Stranger, T. Raj, C. Ye, S. Mostafavi, K. L. Rothamel, M. Lee, J. M. Replogle, T. Feng, S. H. Imboywa, M. Lee, C. McCabe, D. Koller, A. Regev, N. Hacohen, C. O. Benoist, P. L. De Jager, Immunological Variation Consortium.

128/9:00 Allele specific expression analysis using transcriptome sequencing in three tissues of a twin cohort reveals large effect of gene-by-gene and gene-by-environment interactions. A. Buil, A. A. Brown, A. Viñuela, M. N. Davies, H. F. Zheng, J. B. Richards, K. S. Small, R. Durbin, T. D. Spector, E. T. Dermitzakis.

129/9:15 Epigenomic variation between species, tissues, populations and individuals. A. Kundaje, W. Meuleman, J. Wang, N. Kumar, S. Kyriazopoulou-Panagiotopoulou, M. Kasowski, M. Snyder, M. Kellis.

130/9:30 Predicting genome-wide DNA methylation using methylation marks, genomic position and DNA regulatory elements. W. Zhang, T. D. Spector, P. Deloukas, J. T. Bell, B. E. Engelhardt.


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