Massive Analysis and Quality Control Society Conference (MAQC2017) Theme: Reproducible Genomics

Transcription

1 Massive Analysis and Quality Control Society Conference (MAQC2017) Theme: Reproducible Genomics April 12, 2017 SAS Institute, Cary, NC, USA (

2 Table of Contents Agenda at glance.3 About the MAQC Society. 4 Key Information about the Conference.5 MAQC Society Board and Committee. 6 Pre Conference Workshop (2 nd SEQC2 workshop).7 MAQC2017 Conference Program. 11 o Future MAQC Society Conferences. 16 o Biosketch of the Speakers Post Conference Workshop

3 Program at Glance 7 9 PM: The Board meeting Page 3 6: About MAQC Society and Key Info Page 11 32: The MAQC Society meeting Page 7 10: The pre conference workshop on the 2 nd SEQC2 working group meeting Overview: The FDA led consortium project to evaluate WGS and target gene sequencing technologies. The previous workshop has led to the formation of 7 working groups to address specific areas of focus. In this workshop, each working group will provide update on (1) study design, (2) the progress, (3) data analysis plan, and (4) timeline. Page 33: The postconference workshop on Advanced Data Analytics Overview: The workshop provides hands on practice of applying advanced statistical methods for clinical and genomics data analysis. 3

4 About the Massive Analysis and Quality Control (MAQC) Society The MAQC society is a new society and this is its first annual society meeting. The purposes of the Society are scientific, educational, literary, and charitable. The objective of the Society is to communicate, promote, and advance reproducible science principles and quality control for analysis of the massive data generated from the existing and emerging technologies in solving biological, health, and medical problems. The goals of the Society are to Advocate and facilitate the development and application of quality control practice and standard analysis protocols of bioinformatics and biostatistics for enhanced reproducibility across multiple experiments, laboratories, and data analysis methods, Advance our understanding and best practices in the analysis of massive data from emerging technologies applied in drug development, clinical application, and safety/risk assessment. To achieve thes goals, the MAQC Society will: Provide a platform for the members to address and discuss the issues related to the objective. Coordinate activities that will contribute to the development of the objective. Engage its dialog and cooperation with societies and organizations of similar interest and focus. Facilitate the collaboration of researchers to develop projects related to the objective. Promote education and communication of the objective with the national and international communities. Inform the general public on the results and implications of current research related to the objective. Support, encourage, and mentor the career development of young scientists and students deeply engaged in the objective. 4

5 Key information: Conference Date: April 12 (Wednesday), 2017 Venue: SAS Institute Inc., Building C 100 SAS Campus Drive, Cary, NC 27513, USA Hotel (conference rate is available): Embassy Suites 201 Harrison Oaks Boulevard, Cary, North Carolina, 27513, USA TEL: FAX: Registration fee: $200 for all the participants Registration website: Contact persons: Weida Tong (NCTR/FDA) o Weida.tong@fda.hhs.gov, Weida.tong@gmail.com o Tel: (O), (C) Wenjun Bao (JMP/SAS) o Wenjun.bao@jmp.com o Tel: (o), (c) Two adjacent events in the same location without registration fee: 1. April (Mon Tues): The pre conference workshop on the 2 nd SEQC2 working group meeting Overview: The FDA led consortium project to evaluate WGS and target gene sequencing technologies. The previous workshop has led to the formation of 7 working groups to address specific areas of focus. In this workshop, each working group will provide update on (1) study design, (2) the progress, (3) data analysis plan, and (4) timeline. 2. April 13 (Thus): The post conference workshop on Advanced Data Analytics Overview: The workshop provides hands on practice of applying advanced statistical methods for clinical and genomics data analysis. 5

6 Steering Committee: President: Weida Tong, Ph.D., National Center for Toxicological Research, FDA, USA Local Organizing Committee Lead: Wenjun Bao, Ph.D., SAS Institute, Cary, NC, USA President Elect: Leming Shi, Ph.D., Fudan University, Shanghai, China President Elect: Cesare Furlanello, Ph.D., FBK, Trento, Italy David Kreil, Ph.D., Boko University, Vienna, Austria Pawel Labaj, Ph.D., Boko University, Vienna, Austria Joaquin Dopazo, Ph.D., Clinical Bioinformatics Area, FPS, Seville, Spain Rebecca Kusko, Ph.D., Immuneering Corporation Wenzhong Xiao, Ph.D., Stanford University, MA, USA Baitang Ning, Ph.D., NCTR/FDA, USA Pierre Bushel, Ph.D., NIEHS, RTP, USA James Willey, Ph.D., University of Toledo, Ohio, USA MAQC Society Board of Directors and Officers: A Board of Directors is chartered to develop the Society and oversee the Society s activities. Specifically, the Board is dedicated to building and strengthening the reproducible science practice by (1) engaging scientists in academia, industry, and government, (2) fostering collaboration and harmonization of education, research tools, and new technologies, and (3) building the global scientific infrastructure needed to advance and promote reproducible science. President and Board Chairman: Weida Tong, Ph.D., National Center for Toxicological Research (NCTR), FDA, United States President Elect: Leming Shi, Ph.D., Fudan University, China President Elect: Cesare Furlanello, Ph.D., FBK, Trento, Italy Russ Wolfinger, Ph.D., SAS Institute, USA Chris Mason, Ph.D., Weill Cornell Medicine, New York, USA Ben Haibe Kains, Ph.D., Princess Margaret Cancer Center in Toronto, Canada Wendell Jones, Ph.D., Q2 lab solutions, USA Matthias Fischer, Ph.D., Cologne University, Germany Susanna Sansone, Ph.D., Oxford University., UK Executive secretary: Becky Kusko, Ph.D., Immuneering Corporation, USA Treasurer: Baitang Ning, NCTR/FDA, USA 6

7 Brief overview of the Pre Conference SEQC2 workshop: This is the fourth project of MicroArray Quality Control (MAQC) consortium, named Sequencing Quality Control Phase 2 (SEQC2). The primary objective is to develop standard analysis protocols and quality control metrics for fit for purpose use of nextgeneration sequencing (NGS) data to enhance regulatory science research and precision medicine. The project consists of three specific aims: (1) to develop quality metrics for reproducible NGS results from both whole genome sequencing (WGS) and targeted gene sequencing (TGS), (2) to benchmark bioinformatics methods for WGS and TGS towards the development of standard data analysis protocols, and (3) to assess the joint effects of key parameters affecting NGS results and interpretation for clinical application. The figure below outlines the draft study design which is subject to change, revise and improve through this workshop. About MAQC: It is the FDA led community wide consortium effort to address issues relating to the application of constantly evolving high throughput genomics technologies to either assess safety and efficacy of FDA regulated products or their safe and effective use in clinical applications as in vitro diagnostic devices. The MAQC consortium completed three projects between (namely MAQC I, II and III), resulting in ~30 publications and one third of which were published in Nature Biotechnology. Furthermore, two papers of these papers were among the most cited in Nature Biotechnology in the last 20 years ( cited best papers sensorssequencing and arrays and imaging). More information about MAQC is available from ( oject/default.htm). 7

8 Pre Conference Workshop 2nd SEQC2 working group meeting Monday, April 10, :00 AM Registration (Coffee and snack) 8:30 9:00 AM Welcome and Introduction 8:30 8:40 Welcome remark (Russ Wolfinger, Director of Scientific Discovery and Genomics, SAS Institute) 8:40 9:00 SEQC2 An overview and update (Weida Tong, NCTR/FDA) 9:00 12:00 PM WG#1: Somatic Mutation Chair: Wenming Xiao (NCTR/FDA) and Zivana Tezak (CDRH/FDA) This session has 180 min (15 min for each speaker (150 min) + 15min break + 15min Q/A): 1. Overview (study objective/design), Wenming Xiao (NCTR/FDA) 2. ATCC cell lines, Liz Kerrigan, ATCC 3. Sequence quality and preprocessing (Yongmei Zhao, NCI) 4. Error correction for NGS data (Ping Gong, USACE) 5. Sequence alignment (Justin Lack, NCI) 6. SNV/small indel calling (Litai Fang, Roche) 7. Short reads and long reads (Marghoob Mohiyuddin, Roche) 8. Mutation annotation (Mehdi Pirooznia, NHLBI) 9. Cross site comparison (Bin Zhu, NCI) 10. Single Cell sequencing (Malcolm Moos, CBER/FDA) Panel Discussion and Q/A (15 min) 12:00 1:00 pm Lunch will be provided (in Building C Cafeteria) 1:00 4:30 PM WG#2: Target Gene Sequencing Chair: Joshua Xu (NCTR/FDA) and Wenjun Bao (SAS Institute) This session has 210 min (with 20min break + 20min Q/A): Overview (Study objective/design), Joshua Xu (NCTR/FDA, 20 minutes) Pilot study and data analysis results (15 min each = 105min) 1. Agilent: Characterization of Universal Human Reference DNA with Agilent ClearSeq Comprehensive Cancer panel (Natalia Novoradovskaya and Anne Bergstrom Lucas) 8

9 2. IDT: Accurate detection of low frequency genetic variants using novel, molecular tagged sequencing adapters (Kristina Giorda) 3. Illumina (TBD) 4. Qiagen: Deep sequencing using SPE (single primer extension) and molecular barcoding of a large targeted DNA panel on the SEQC2 ABC samples (Zhong Wu) 5. Roche NimbleGen (TBD) 6. Thermo Fisher: SEQC2 Pilot Study Update (Simon Cawley) 7. TOMA (Francisco De La Vega) Peripheral studies (15 minutes each = 45min) 1. Analysis of Cell line sequencing data to build consensus variant calls (Binsheng Gong, NCTR/FDA) 2. Deep sequencing of Neuroblastoma samples with IDT s molecular tagging technique (Matthias Fischer, Univ of Cologne, Germany) 3. Developing a liquid biopsy test for lung cancer (Don Johann, UAMS) Panel discussion and Q/A (20min) 6:30 Dinner (TBD) Tuesday, April 11, :00 AM Registration (Coffee and snack) 8:30 10:00 AM WG#3: Germline Variants Chair: Huixiao Hong (NCTR/FDA) and Leming Shi (Fudan, China) This session has 90 min: 1. Study design / HapMap trio data, Huixiao Hong (NCTR/FDA, 10mim) 2. Chinese quartet data / Agreement on data and results sharing, Leming Shi (Fudan, 20min) 3. ABRF data / Data analysis, Chris Mason (Cornell, 10min) 4. Downstream data analysis, Kelci Miclaus (10 min) 5. Rare variant analysis using Whole Exome Sequencing data, Yingtao Bi 6. Potential manuscripts, Huixiao Hong (10 min) 7. Potential manuscript on SNVs, Marghoob Mohiyuddin (10 min) 8. Panel Discussion and Q/A (10 min) Coffee Break (20min) 10:20 12:00 PM WG#4: Difficult Genes 9

10 Chair: Baitang Ning (NCTR/FDA) and Wenzhong Xiao (Stanford U) This session has 100 min: Update the working status of WG#4 and DMET Selection ( 10 min): Baitang Ning HLA genotyping by NGS, challenges and strategies (20 min): Wenzhong Xiao Finland Twin Cohort for Difficult Genes (20 min): Andreas Scherer and Chris Mason HLA typing from RNA seq (20 min): Chad Brown Panel Discussion and Q/A (30 min) 12:00 1:00PM Lunch will be provided (in Building C Cafeteria) 1:00 3:00 PM Additional Topics Chair: Chris Mason (Cornell U) and David Kreil (Boko U) This session has 120 min (10 min for each speaker (8 speakers), 20min break): Epigenomics in SEQC2 (WG#7), Chris Mason Targeted RNA Seq for o Ontology and difficult genes, David Kreil o Pilot results, Paweł Łabaj Additional samples for SEQC2: o Design of FFPE samples through cell line mixture and comparison study, Tom Blomquist o Design and Pilot study of competitive template spike in control mixtures for targeted DNA seq quality control, Jim Willey and Tom Morrison FDA activities in NGS: o CDER review process (Eric Donaldson, CDER/FDA) o NGS in CDRH review process (Zivana Tezak, CDRH/FDA) o PrecisionFDA and reproducible pipelines (Samir Lababidi, OC/FDA) NCBI data repository (Chunlin Xiao/Steve Sherry, NCBI) 3:00 5:00 PM Discussion and Decision Chair: Weida Tong (NCTR/FDA) and Leming Shi (Fudan U) Discuss the SEQC2 manuscripts o SEQC2 consortium for study of somatic mutation o SEQC2 consortium for study of target gene sequencing o SEQC2 consortium for study of germline variants call o 10

11 MAQC2017 Conference Program Reproducible Genomics Tuesday, April 11, :00 8:00 PM Registration Desk Open 6:30 8:30 PM Welcome reception (TBD) Wednesday, April 12, :00 12:00 AM Registration Desk Open 8:00 8:30 AM Coffee and Snacks Morning Session 8:30 8:45 AM General Session Welcome and Introductory Remarks Russ Wolfinger, Director of Scientific Discovery and Genomics, SAS Institute, USA MAQC Society An Introduction Weida Tong, National Center for Toxicological Research, FDA, USA 11

12 8:45 10:00 AM Session 1: Advancing Reproducible Genomics Lessons Learned from the MicroArray and Sequencing Quality Control (MAQC/SEQC) Consortium Session Chairs: Wenjun Bao (SAS Institute) and Leming Shi (Fudan University) 8:45 9:15 Keynote Address on Reproducibility, Statistics, and MAQC/SEQC Russ Wolfinger, Director of Scientific Discovery and Genomics, SAS Institute, USA 9:15 9:30 Top 5 Lessons Learned from MAQC I Wendell Jones, Q2 lab solutions, USA 9:30 9:45 Top 5 Lessons Learned from MAQC II Leming Shi, Fudan University, Shanghai, China 9:45 10:00 Top 5 Lessons Learned from MAQC III/SEQC Weida Tong, NCTR/FDA, USA 10:00 10:15 Coffee Break 12

13 10:15 11:30 Session 2: Current Efforts Towards Reproducible Genomics Session Chairs: Matthias Fisher (Cologne University) and Andreas Scherer (EATRIS) 10:15 10:30 RNA Seq Pipeline Evaluation May Wang, Georgia Institute of Technology and Emory University, Atlanta, USA 10:30 10:45 Best Practice for RNA Seq Analysis David Kreil, Boko University, Vienna, Austria 10:45 11:00 Minimal Elements for Determination of Confidence Limits Around NGS Measurement of DNA Variant Fraction James Willey, University of Toledo, Ohio, USA 11:00 11:15 The Least Common Denominator: Synthetic Spike In Modules for Referencing NGS Pipelines, Experiments, and Individual Samples Torsten Reda, Lexogen, Vienna, Austria 11:15 11:30 Advancement in Metrology for Biomedical Science Jing Wang, National institute of metrology, Beijing, China 11:30 1:00 PM Lunch in Building C Cafeteria 13

14 Afternoon Session 1:00 2:45 PM Session 3: Reproducible Genomics in Practice Session Chairs: Cesare Furlanello (FBK) and Joaquin Dopazo (PFRC) 1:00 1:30 Keynote Address on Standards in Genomics and Epigenomics for This World and Others Chris Mason, Weill Cornell Medical College, USA 1:30 1:45 Towards Reproducible Cancer Genomics Jian Liang Li, NIEHS, RTP, USA 1:45 2:00 Towards Reproducible Toxicogenomics: T Test versus ANOVA Binsheng Gong, NCTR/FDA, USA 2:00 2:15 Mechanistic approach for Enhanced Reproducibility of Genomics Joaquin Dopazo, Clinical Bioinformatics Area, FPS, Seville, Spain 2:15 2:45 Coffee Break 14

15 2:45 4:30 PM Session 4: Reproducible Genomics in Application Session Chairs: Ben Haibe Kains (Princess Margaret Cancer Center, Canada) and Chris Mason (Weill Cornell Medicine, USA) 2:45 3:00 The Importance of Data and Code Sharing and Transparent Pre and Post Publication Review: A Case Study in Pharmacogenomics Ben Haibe Kains, Princess Margaret Cancer Center in Toronto, Canada 2:30 3:15 Training assay specific germline and somatic callers with deep learning Fabien Campagne, Weill Cornell Medicine, New York, USA 3:15 3:30 Genomics In Vitro to In Vivo Extrapolation (GIVIVE) A Toxicogenomics Example Zhichao Liu, NCTR/FDA, USA 3:30 3:45 Of Human Diseases and Models: Examples in Inflammation Wenzong Xiao, Stanford University, MA, USA 3:45 4:15 Closing Remarks and Future Society Conferences Weida Tong, President, NCTR/FDA, USA Leming Shi, President Elect, Fudan University, Shanghai, China President Elect: Cesare Furlanello, Ph.D., FBK, Trento, Italy 15

16 Future Society Conferences: MAQC2018 (February 24 26, 2018, Shanghai, China) The 2018 MAQC Annual Meeting will be held in Shanghai with a tentative theme of "Facilitating Clinical Utilities of Genomics Reproducibility in Practice". MAQC2019 (April 08 10, 2019, Trentino, Italy) The 2019 MAQC Annual Meeting will be held in Riva del Garda (Trentino) with a tentative theme of Machine Learning and Precision Medicine Reproducibility in Big Data. 16

17 Russell D. Wolfinger, Ph.D. Director of Scientific Discovery and Genomics SAS Institute Inc. Cary, NC USA E mail: russ.wolfinger@sas.com Russ leads a team in research and development of JMP based software solutions in the areas of genomics and clinical research. He joined SAS in 1989 after earning a PhD in Statistics from North Carolina State University (NCSU). For ten years he devoted his efforts to developing statistical procedures in the areas of linear and nonlinear mixed models, multiple testing, and density estimation. In 2000 he started the Scientific Discovery department at SAS. Wolfinger is co author of more than 100 publications and a fellow of both the American Association for the Advancement of Science and the American Statistical Association. He also is an adjunct faculty member at NCSU and the University of North Carolina at Chapel Hill and a Kaggle Master 17

18 Weida Tong, Ph.D. Director Division of Bioinformatics and Biostatistics NCTR/FDA E mail: weida.tong@fda.hhs.gov Dr. Tong is Director of Division of Bioinformatics and Biostatistics at FDA s National Center for Toxicological Research (NCTR/FDA). He has served a science advisory board member for several large projects involving multiple institutes in Europe and USA. He also holds several adjunct positions at universities in US and China. His division at FDA works to develop bioinformatic methodologies and standards to support FDA research and regulation and to advance regulatory science and personalized medicine. The most visible projects of his group are (1) leading the Microarray Quality Control (MAQC) consortium to develop standard analysis protocols and quality control metrics for emerging technologies to support regulatory science and precision medicine; (2) development of liver toxicity knowledge base (LTKB) for drug safety; (4) in silico drug repositioning for the enhanced treatment of rare diseases; and (4) development of the FDA bioinformatics system, ArrayTrack TM suite, to support FDA review and research on pharmacogenomics. In addition, his group also specializes in molecular modeling and QSARs with specific interest in estrogen, androgen, and endocrine disruptor. Dr. Tong has published more than 230 papers and book chapters. 18

19 Wendell Jones, PhD Principal Bioinformaticist and Scientific Advisor EA Genomics A business unit of Q2 Solutions E mail: Wendell.Jones@Q2labsolutions.com Dr. Jones is currently Principal Bioinformaticist and Scientific Advisor at Q2 Solutions EA Genomics. He conducts collaborative scientific research with clients in multiple areas, especially in oncology and immuno oncology. His background includes leading the analysis, development and validation of the bioinformatic and computational systems that process complex genomic assays, including next generation sequencing assays, evaluating new and emerging genomic technologies, and developing bioinformatic implementation strategies. He consults with clients and provides thought leadership in industry and public consortiums involved in genomic science and measurement. Dr. Jones has over 15 years of experience in advanced genomic technologies and 20 years of experience in scientific and technology leadership positions, including serving as Vice President of Statistics and Bioinformatics at Expression Analysis, Inc and Chief Science Officer at Reliametrics, a Nortel Networks business unit. He has authored over 30 peer reviewed publications and has presented at numerous scientific meetings and industry conferences and consortium workshops. 19

20 Leming Shi, Ph.D. Professor and Director Center for Pharmacogenomics and Fudan Zhangjiang Center for Clinical Genomics School of Life Sciences, Fudan University Shanghai, China E mail: LemingShi@fudan.edu.cn Dr. Leming Shi is a professor at the School of Life Sciences of Fudan University in Shanghai, China where he established and directs the Center for Pharmacogenomics and Fudan Zhangjiang Center for Clinical Genomics. Dr. Shi s research focuses on pharmacogenomics, bioinformatics, and cheminformatics aiming to realize precision medicine by developing biomarkers for early cancer diagnosis, prognosis, and personalized therapy. As a principal investigator at the US Food and Drug Administration (FDA) from 2003 to 2012, Dr. Shi conceived and led the MicroArray and Sequencing Quality Control (MAQC/SEQC) project aimed at realizing precision medicine by standardizing genomics and bioinformatics ( and leading to the development of several FDA guidance documents. Dr. Shi was a co founder of Chipscreen Biosciences Ltd. in Shenzhen, China where he co developed a chemogenomics based drug discovery platform leading to several novel small molecule drug candidates with promising efficacy and safety profiles in anticancer and antidiabetic clinical trials in China, US, and Japan, with one novel compound (Chidamide) approved in 2014 by China FDA for treating T cell lymphoma and another candidate in Phase III clinical trials. Dr. Shi is a co inventor on nine issued patents about novel therapeutic molecules and has published over 200 peer reviewed papers (11 of them appeared in Nature Biotechnology) with >8,000 citation by SCI journals. Dr. Shi received his Ph.D. in computational chemistry from the Chinese Academy of Sciences in Beijing, M.Sc. in computational chemistry from the University of Science and Technology of China in Hefei, and B.Sc. in analytical chemistry from Hunan University in Changsha, China. Dr. Shi conducted postdoctoral training at Case Western Reserve University and the NIH/NCI. Dr. Shi was a senior research scientist at Wyeth (now Pfizer) and BASF before co founding Chipscreen in

21 David P. Kreil, Ph.D. Chair of Bioinformatics Boku University Vienna E mail: dpkreil@gmail.com Interests: Development of computational and quantitative experimental methods to allow the investigation of complex biological questions that are hard to examine using traditional gene by gene approaches alone. Background: Analysis of life science data using probabilistic and statistical methods, sequence analysis(research Fellow of Darwin College and the Medical Research Council UK, Dept of Genetics & Cavendish Laboratory, Univ. of Cambridge). Integration of heterogeneous databases and bioinformatics tools, comparative genome analysis (EMBL fellow, European Bioinformatics Institute, Cambridge). Theory of dynamic properties at phase transitions (Dept of Physics, Technical University of Munich) 21

22 James C. Willey, M.D. George Isaac Professor for Cancer Research Professor of Medicine and Pathology University of Toledo College of Medicine Toledo, OH E Mail: James.Willey2@utoledo.edu Dr. James Willey is George Isaac Professor for Cancer Research at Director of Research for the Eleanor N. Dana Cancer Center at the University of Toledo College of Medicine in Toledo OH. Dr Willey has participated in several national and international consortia comprising academic, governmental, and industrial groups aiming to improve quantification and standardization of transcript abundance measurement and next generation sequencing methods. Dr. Willey s research has been funded by NIH for more than twenty years. His primary area of research is development of quantitative methods for transcript abundance measurement and quantitative analysis of the relationship between transcript abundance level, promoter DNA sequence, and functional status of proteins that interact with the promoter DNA sequence. His applied research involves applying this quantitative approach to understanding how a particular combination of common inherited DNA variants in promoter regions and/or regulatory protein coding regions may increase risk for disease or alter individual response to therapeutics by decreasing optimal regulation of key genes responsible for the normal phenotype. Dr. Willey has over 13 patents for molecular diagnostics technology, and the technology is licensed to Accugenomics, Inc. Dr. Willey is a Co Founder of Accugenomics, Inc., located in Wilmington, North Carolina, USA. Prior to joining the University of Toledo Medical Center and University of Toledo College of Medicine in 1994, Dr. Willey was Assistant Professor of Medicine and Environmental Medicine at the University of Rochester School of Medicine, Rochester, N.Y. He did his post doctoral training at the National Cancer Institute with Curt Harris. He completed training in Pulmonary Medicine at the Pulmonary Branch of the National Heart, Lung, and Blood Institute in Bethesda, MD, and the University of Rochester Strong Memorial Hospital. 22

23 Torsten Reda, Ph.D. Chief Scientific Officer Lexogen Vienna, Austria E mail torsten.reda@lexogen.com Torsten is a biophysicist and joined Lexogen in September 2009 to become its CSO. Lexogen s mission is to develop innovative technologies to resolve the complexity of transcriptomes by accurate and reproducible RNA measurements. Here, Torsten is leading a multidisciplinary team which bridges the gap between fundamental research and applied sciences. Under his aegis the R&D team filed 12 patents in the field of RNA segregation, solid phase amplification, RNA sequencing, and data evaluation, and developed a portfolio of diverse RNA analysis tools. Before, Torsten worked for 5 years in the area of bioelectrochemistry and electron spin resonance at the MRC Mitochondrial Biology Unit in Cambridge (UK) to research the structure and function of NADH Dehydrogenase. He also continued with fundamental research in reversible interconversion of carbon dioxide by electroactive enzymes, a topic which started during his time as a postdoctoral fellow at the CSIRO Industrial Physics in Sydney (Australia) where he investigated the biophysical principles of organic electrocatalysts and nanoparticle carriers for artificial photosynthesis reactions. In 1999 Torsten received his PhD from the Technical University Munich (Germany), Department of Biological Chemistry with his thesis about biomimetic molecular switches on basis of redoxactive compounds, after having studied Biophysics at the Humboldt University Berlin (Germany). Torsten has written 20 scientific publications, and is coinventor of 8 patents. 23

24 Jing Wang, Ph.D. Deputy director of division of medical and biological measurement, National institute of metrology (NIM), China. E mail: wj@nim.ac.cn She is an academic leader of bio metrology, responsible for establishing national biometrological standard and bio measurement technology platform. From 2003, she embarked on the national measurement and metrology on bioanalysis. Until 2005 she finally established a bio measurement technology research platform of nucleic acid, protein, microbiology, cell, bio active components, fatty acid and biotoxin. From 2003, as a representatives of county, she first attend the meeting of BIPM/CCQM bio analyze working group (BAWG) and becoming BAWG member. She is ISO members of the Council Task Force on Biotechnology in Now she also is co chair of Quantity group in Microbial Measurements Steering Group (MBSG), the National Technical Committee of Biometrology (NTCB) s secretary general, Members of a council in Chinese Society for Measurement (CSM) and Beijing Food Institute (BFI). She has done many studies on the safety and life sciences. Principal Investigator and Head of National science and technology key project of Study on the tracebility and delivery technology of bio safety. Topic Responsible Person of National project of research on the measurement technology and standard of Food, Chinese traditional medication and natural products effective ingredient. She gained S&T Award of AQSIQ and Beijing 7 times from 2005 to 2015 and have finished 11 national standards. She has published four books. 24

25 Christopher E. Mason, Ph.D. Associate Professor Department of Physiology and Biophysics Weill Cornell Medical College, New York, USA E mail: christopher.e.mason@gmail.com Dr. Mason, is an associate professor of Computational Genomics at Weill Cornell Medical College. He completed his B.S In Genetics and Biochemistry from University of Wisconsin Madison and Ph.D. in Genome Evolution and postdoctoral in Neuroscience from Yale University. His laboratory work utilizes computational and experimental methodologies to identify and characterize the essential genetic elements that guide the function of the human genome. He perform research in three principal areas: (1) the functional annotation of the human genome by mutational profiling in families with brain malformations and cancer patients, (2) the examination of the elements that orchestrate the development of the human brain and their evolutionary changes, and (3) the development of models for systems and synthetic biology. Mason Lab uses highthroughput methods to generate cell specific molecular maps of genetic, epigenetic, and transcriptional activity and we use them to create multi dimensional molecular portraits of development and disease. He also develops algorithms to detect, catalog and functionally annotate variants in the genetic pathways that control developmental processes. He has more than 130 publications. 25

26 Jian Liang Li, Ph.D. Director, Integrative Bioinformatics Group Division of Intramural Research National Institute of Environmental Health Sciences 111 T.W. Alexander Drive Research Triangle Park, NC E mail: Jianliang.Li@nih.gov Dr. Jian Liang (Jason) Li is Director of Integrative Bioinformatics group at National Institute of Environmental Health Sciences (NIEHS). Dr. Li has extensive experience in both academia and pharmaceutical industry. His major interests include developing and applying bioinformatics and statistical approaches to analyze and integrate highthroughput omic data. Before joining the NIEHS, he was Director of Applied Bioinformatics core at Sanford Burnham Medical Research Institute at Lake Nona, where he established a bioinformatics group in collaboration with basic research groups for supporting cancer genomics researches. Dr. Li received his Ph.D. in Bioinformatics from Boston University and has published more than 50 papers. 26

27 Binsheng Gong, Ph.D. Visiting Scientist Division of Bioinformatics and Biostatistics NCTR/FDA E mail: Binsheng.Gong@fda.hhs.gov Dr. Gong is a Visiting Scientist in Division of Bioinformatics and Biostatistics at FDA s National Center for Toxicological Research (NCTR/FDA), with expertise in nextgeneration sequencing technologies and high throughput data analysis. His studies have significantly advanced the application of bioinformatics methods and systems biology strategies in basic biological study and translational medicine and his research achievements have been recognized with several awards from U.S. FDA and from China. He has served as reviewer for multiple prestigious journals such as Oncotarget, PLoS ONE, Scientific Reports, etc. Dr. Gong has been involved as one of the major investigators in the FDA led SEquencing Quality Control (SEQC) project, and he is the leading author of one Nature Biotechnology paper and co authors of several others produced by SEQC project. Dr. Gong has more than 30 research papers published in prestigious journals such as Nature Biotechnology, Genome Biology, Nucleic Acid Research, etc. His researches have received more than 350 citations from government agencies, armies, pharmaceutical and food companies and research institutes. Dr. Gong was one of the chapter editors of the first bioinformatics text book for higher institutions in China. 27

28 Joaquin Dopazo, Ph.D. Director Clinical Bioinformatics Area, Fundación Progreso y Salud, Andalusian Ministry of Health, Spain E mail: joaquin.dopazo@juntadeandalucia.es Dr. Joaquin Dopazo heads the Clinical Bioinformatics Area of the Ministry of health of Andalucia, Spain. He leads the Bioinformatics groups of the Spanish network for Rare Diseases and is part of the Spanish Institute of Bioinformatics. He has a BSc in Chemistry and a PhD in Biology (University of Valencia, 1989). He was previously leading Bioinformatics teams at the Computational Genomics Department at CIPF, Valencia, the Bioinformatics unit of the CNIO (Madrid, Spain) and the Bioinformatics Unit of Glaxo Wellcome (Madrid, Spain), as well as in some other private and academic institutions. He has published more than 270 papers in international peer reviewed journals. Dr. Dopazo s interests revolve around functional genomics, systems biology as well as development of algorithms and software for the analysis of high throughput genomic data and its application to personalized and precision medicine. He is particularly interested in studying disease mechanisms and drug action mechanisms by modeling complex cellular systems in which signaling, regulation and metabolism information are integrated. He has participated in numerous European and International consortiums and in Spain has promoted initiatives such as the Medical Genome Project in which more than 1000 exomes of patients of familiar diseases were sequenced to find disease genes. 28

29 Benjamin Haibe Kains, Ph.D Scientist Princess Margaret Cancer Center University Health Network Assistant Professor Department of Medical Biophysics University of Toronto Adjunct Professor Department of Computer Science University of Toronto OICR Associate Ontario Institute of Cancer Research E mail: benjamin.haibe.kains@utoronto.ca Dr. Haibe Kains earned his Ph.D in Bioinformatics at the Université Libre de Bruxelles (Belgium), for which he was awarded the Solvay Award (Belgium). Supported by the Fulbright Award, Dr. Haibe Kains did his postdoctoral fellowship at the Dana farber Cancer Institute and Harvard School of Public Health (USA). He started his laboratory at the Institut de Recherches Cliniques de Montréal (Canada) and moved to PM in November His research focuses on the integration of high throughput data from various sources to simultaneously analyze multiple facets of carcinogenesis. His team is analyzing high throughput (pharmaco)genomic datasets to develop new prognostic and predictive models and to discover new therapeutic regimens in order to significantly improve disease management. Dr. Haibe Kains main scientific contributions include several prognostic gene signatures in breast cancer, subtype classification models for ovarian and breast cancers, as well as genomic predictors of drug response in cancer cell lines. 29

30 May Dongmei Wang, Ph.D Professor, Kavli Fellow Georgia Research Alliance Distinguished Cancer Scholar GeorgiaTech and Emory University E mail: maywang@gatech.edu Dr. May Dongmei Wang is a full professor in the Joint Biomedical Engineering Department of Georgia Tech and Emory University, a Kavli Fellow, a Georgia Cancer Coalition Scholar, and a Fellow of the American Institute for Biological and Medical Engineering (AIMBE). Her research interest is in Biomedical Big Data Analytics with a focus on Biomedical and Health Informatics (BHI) for predictive, personalized, and precision health (phealth), including high throughput next generation sequencing and omic data mining to identify clinical biomarkers, bionanoinformatics, pathological imaging informatics to assist clinical diagnosis, critical and chronic care health informatics for evidence based health decision support, and predictive systems modeling to improve health outcome. In the FDA organized MAQC international consortium, Dr. Wang led RNA Seq data analysis pipeline study. She has published over 200 papers in peer reviewed journals and conference proceedings. She delivered more than 200 invited and keynote lectures in professional conferences, academic institutions, healthcare systems, government agencies, and industry. Dr. Wang is a recipient of an Outstanding Faculty Mentor Award for Undergraduate Research at Georgia Tech, and a MilliPub Award from Emory University School of Medicine. In addition, Dr. Wang is Georgia Tech Biomedical Informatics Program Co Director in Atlanta Clinical and Translational Science Institute (ACTSI), Co Director of Georgia Tech Center of Bio Imaging Mass Spectrometry, and Biocomputing and Bioinformatics Core Director in Emory Georgia Tech Cancer Nanotechnology Center. Her research has been supported by NIH, NSF, CDC, Georgia Research Alliance (GRA), Georgia Cancer Coalition (GCC), Emory Georgia Tech Cancer Nanotechnology Center, Children s Health Care of Atlanta (CHOA), Atlanta Clinical and Translational Science Institute (ACTSI), and industrial partners such as Microsoft Research and HP. 30

31 Zhichao Liu, Ph.D. Principal investigator Division of Bioinformatics and Biostatistics NCTR/FDA Dr. Liu's background is across Chemistry, Biology and Computer Science. In past ten years, he led and took part in several cutting edge projects from both industry and academia. Specifically, he developed innovative approaches for in silico drug repositioning framework to seek for novel opportunities for rare disease treatment development. Furthermore, Dr. Liu s research is also focused on toxicogenomics for facilitating the drug safety evaluation. One remarkable research is to investigate Genomics In Vitro to In Vivo Extrapolation (GIVIVE) for drug induced liver injury. His interests widely covers (1) development of flexible and integrative risk prediction systems for drug safety evaluation; (2) development and application of standard pipeline for genomic data (e.g. microarray/ngs) analysis for drug safety and efficacy questions; (3) development of strategies and frameworks to facilitate text mining performance for diverse of document types and infrastructures; (4) Design and development of databases and visualization systems that allow interactive exploration of complex interior relationship embedded in biological data profiles. Dr. Liu has published more than 50 papers in the prestigious journals. 31

32 Wenzhong Xiao, Ph.D. Stanford Genome Technology Center Stanford University School of Medicine E mail: wzxiao@stanford.edu Wenzhong Xiao is Director of the Immuno Metabolic Computational Center at Massachusetts General Hospital, Harvard Medical School. His research is at the interface of computation, genomics and medicine. A major bottleneck of genome medicine today is no longer data generation but computational challenges around data analysis, interpretation, and integration. His research interest is to develop approaches to address these challenges and to help translate genome technologies to better disease diagnosis, prevention and therapeutics, especially in the studies of the human immune and metabolic diseases. His lab developed several algorithms for the statistical analysis and integration of omic data for biomarker identification in large scale disease studies, and the knowledge based network analysis for the interpretation and integration of genomic data. He also directs the Computational Genomics Lab at Stanford Genome Technology Center, and is responsible for the computational developments in multiple new applications in genome technology. 32

33 Post Conference Workshop Advanced Data Analysis Thursday, April 13, 2017 Data scientists from the SAS / JMP Life Sciences division will offer a free advanced level hands on workshop to MAQC Society conference attendees with limited seats available right after the conference. We will analyze one or more complex experiments together and discuss various statistical methods and concepts. You will be able to follow along on your laptop. When: 9am 5pm, April 13, 2017 Where: SAS Institute Inc. Data: Submit your omics, NGS, clinical trial, or laboratory data before March 24, We will select representative data sets to demonstrate analyses. Your data set must be publicly shareable, but we will request that other attendees keep it confidential until you provide permission to use it more broadly. Analysis: Depending on the problems, topics can include: Design of Experiments, Quality Assessment, Normalization, ANOVA and Mixed Modeling, Reproducibility, Pattern Discovery, Predictive Modeling, Genetic Marker Screening, Genome Wide Association Study, Population Analysis, Marker Assisted Breeding and Cross Evaluation, Best Linear Unbiased Prediction, Linkage Mapping, Quantitative Trait Loci, Bioassay, Clinical Trials, Bioequivalence, Method Comparison, Calibration Curves, Limit of Quantification. Software: JMP, with dashboards created by JMP Genomics and/or JMP Clinical Instructors: Dr. Russ Wolfinger(JMP/ SAS), a fellow of the American Association for the Advancement of Science and the American Statistical Association, will lead the workshop with assistance from other data scientists on the JMP Life Sciences Team. Contact: Dr. Wenjun Bao (JMP/SAS) wenjun.bao@jmp.com to register Tel: (0),