Poster Presentations

1.     Rapid Assessment OF SARS-COV-2 Clades Through Molecular Sequence Analysis

        Alexander Lucaci; Jordan Zehr; Stephen Shank; Steven Weaver;  Sergei Kosakovsky Pond   

        Institute for Genomics and Evolutionary Medicine, Temple University, Philadelphia, Pennsylvania, USA

2.     Was an Adenovirus Vaccine Challenge Trial Conducted on ICU patients at Wuhuan Jinyintan Hospital in Dec.                   2019? Additional Evidence to Support Dr. Quay's Finding.

        Mursalin Singh and Chun Wu    Chemistry and Biochemistry Department, Rowan University, Glassboro, NJ 

3.     A PheWAS of rs279858, a GABRA2 SNP Previously Associated with Alcohol Use Disorder, Yields Associations               with Risk-taking Behavior

        Alison K. Merikangas, PhD, MPH (1,2,3); Rachel L. Kember, PhD (4,5); Laura Almasy, PhD (1,2,3) 
        1. Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia; 2. Lifespan Brain Institute of the             Children's Hospital of Philadelphia and Penn Medicine;3. Department of Genetics, Perelman School of Medicine,                         University of Pennsylvania ; 4. Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania; 5.                 Mental Illness Research, Education and Clinical Center, Corporal Michael J. Crescenz VA Medical Center

4.     Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health                 Records

        James Margolin Havrilla(1); Menggee Zhao(1); Cong Liu(2); Chunhua Weng(2); Ingo Helbig(1); Elizabeth Bhoj(1); Kai                 Wang K(1) 1. Children's Hospital of Philadelphia 2. Columbia University

5.     Disease Mutation Corpus: A Resource for Recognition of Diseases, Genes and Mutations from 

        Natural Texts

        Andy Wei(1,2), Li Fang (1), Kai Wang(1,3) 1.Raymond G. Perelman Center for Cellular and Molecular Therapeutics,                   Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA 2. Belmont High School, Belmont, MA 02478, USA
        3. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania,                         Philadelphia, PA 19104, USA

6.     Metabolic Modeling Infers Proliferation-specific Functionality of Hepatocytes Following Integration with

        scRNA-seq Data from Rats Adapted to Chronic Ethanol Intake

        Alexandra Manchel(1), Benjamin Barnhart(1), Sirisha Achanta(1), Jan B Hoek(1), Rajanikanth Vadigepalli(1)
        1. Thomas Jefferson University, Department of Pathology, Anatomy and Cell Biology, Philadelphia, PA

7.    Leveraging Representation Learning on the Human Phenotype Ontology

       Maryam Daniali(1,2), Shiva Ganesan(2,3,4), Peter D. Galer(2,3,4), Shridhar Parthasarathy(2,3,4), Edward Kim(1), Dario D.        Salvucci(1), Jeffrey M. Miller(2), Ingo Helbig(2,3,4,5), Scott Haag(2) 1.Department of Computer Science, Drexel University;        2.Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia; 3.Division of Neurology,              Children’s Hospital of Philadelphia; 4.The Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia;            5.Department of Neurology, University of Pennsylvania, Perelman School of Medicine

8.    Mitochondrial DNA Variants in Populations with Active and Inactive Eosinophilic Esophagitis

       Karami, A., Fuller, A., Cruz, J., Murray, M.G., Tan, Y.F., Whelan, K. Fels Institute for Cancer Research and Molecular                    Biology, Lewis Katz School of Medicine, Temple University

9.    Integrating 3D Genomic and Epigenomic Data to Enhance Target Gene Discovery and Drug Repurposing in                     Transcriptome-wide Association Study

       Chachrit Khunsriraksakul1,2, Daniel McGuire2,3, Renan Sauteraud2,3, Fang Chen2,3, Lina Yang2,3, Rosa S. Kim2,                  Jordan Hughey1,2, Scott Eckert1,2, J. Dylan Weissenkampen2,3, Ganesh Shenoy4, Olivia Marx5, Laura Carrel6, Bibo                Jiang3,*, Dajiang J. Liu1,2,3,*    1 Department of Bioinformatics and Genomics; Pennsylvania State University College of            Medicine  2 Institute for Personalized Medicine; Pennsylvania State University College of Medicine; 3 Department of Public        Health Sciences; Pennsylvania State University College of Medicine;  4 Department of Neurosurgery; Pennsylvania State          University College of Medicine;5 Biomedical Science Program; Pennsylvania State University College of Medicine; USA.  6        Department of Biochemistry and Molecular Biology; Pennsylvania State University College of Medicine

10.  Genomic Surveillance of SARS-CoV-2 in the State of Delaware Reveals Tremendous Genomic Diversity

       Karl R. Franke PhD, Robert Isett MB, Alan Robbins MSc, Carrie Paquette-Straub MS, Craig A. Shapiro MD, Mary M. Lee            MD, and Erin L. Crowgey PhD    Research Department, Nemours Children's Hospital Delaware, Wilmington, DE

11.  Making Discoveries with Kids First Variant Tools

       Yiran Guo(1); Jeremy Costanza(2); Christoper Botek(2); Miguel Brown M(1);David Higgins(1); Yuankuan Zhu(1); Bailey              Farrow(1); Allison Heath(1);Adam Resnick(1); Vincent Ferretti(2); Kids First Data Resource Center(3)
       1. Center for Data-Driven Discovery in Biomedicine at the Children’s Hospital of Philadelphia.
       2. Centre Hospitalier Universitaire Sainte-Justine, Montréal, Québec, Canada

12.  Refined Characterization of Circulating Tumor DNA Through Biological Feature Integration

       Havell Markus†&, Dineika Chandrananda&, Elizabeth Moore, Florent Mouliere*, James Morris, James Brenton, Christopher        G. Smith#, and Nitzan Rosenfeldj#
       1.Cancer Research UK Cambridge Institute, Li Ka Shing Centre, Robinson Way, Cambridge CB2 0RE, UK.
       2.Cancer Research UK Major Centre – Cambridge, Cancer Research UK Cambridge Institute, Li Ka Shing Centre,                      Robinson Way, Cambridge CB2 0RE, UK.
       *Amsterdam UMC, Vrije Universiteit Amsterdam, Department of Pathology, Cancer Centre Amsterdam, 1081 HV,                         Amsterdam, The Netherlands.

13.  FRED: Fall Risk Evaluation Database Based on EHR data

       Pengyuan Lu(1);  Xian Li(1); Sooyong Jang(1); Alexander Lee(1); Sydney Pugh(1); Amanda Watson(1); Ragnhidur                      Bjarnadóttir(2); Robert Lucero(3); George Demiris(1); Ani Nenkova(1); James Weimer(1); Insup Lee(1) 
       1. University of Pennsylvania1. University of Pennsylvania  2. University of Florida 3. University of California, Los Angeles
.

14.  BisMapR: RNase H-based Strand-specific Native R-loop Detection

       Philip Wulfridge(1,2); Kavitha Sarma(1,2)  1. Gene Expression and Regulation Program, The Wistar Institute, Philadelphia,          PA 2. Epigenetics Institute, University of Pennsylvania,

15.  Diagnostic Timeline and Clinical Efficacy of Telemedicine-Based Pediatric Genetics Care

       Ian M. Campbell(1,2), Katherine M. Szigety(1), Terrence B. Crowley(1), Kimberly B. Gaiser(1), Erin Y. Chen(1), Jessica R.           C. Priestley(1), Lydia S. Williams(1), Sneha A. Rangu(1), Christina M. Wright(3), Priyanka Adusumalli(1), Rebecca C.                  Ahrens-Nicklas(1,4), Brandon Calderon(1), Sanmati R. Cuddapah(1,4), Andrew Edmondson(1,4), Can Ficicioglu(1,4),                 Rebecca Ganetzky(1,4), Jennifer M. Kalish(1,4), Ian D. Krantz(1,4), Donna M. McDonald-McGinn(1,4), Livija Medne1,                Colleen Muraresku(1), Louise C. Pyle(1,4), Elaine H. Zackai(1,4), and Sarah E. Sheppard(1) Affiliations: 1) Division of                Human Genetics, Children’s Hospital of Philadelphia 2) Department of Biomedical and Health Informatics, Children’s                  Hospital of Philadelphia 3) Perelman School of Medicine, University of Pennsylvania 4) Department of Pediatrics, Perelman        School of Medicine at the University of Pennsylvania

  

16.  Polygenic Score Pipeline (PiPn): a Toolkit for Automated Polygenic Score Analysis using the PGS

       Catalog / Topic Area: Genotype-Phenotype relationships

       Vivek Sriram(1,2), Manu Shivakumar(1,2), Dokyoon Kim(1)*, Anurag Verma(3)*
       1. Department of Biostatistics, Epidemiology & Informatics, Perelman School of Medicine, University of Pennsylvania 
       2. Genomics and Computational Biology Graduate Group, Perelman School of Medicine, University of Pennsylvania 
       3. Department of Medicine, Perelman School of Medicine, University of Pennsylvania

17.  African Ancestry-informative Markers and Their Potential in Identifying Cancer-related SNPs

       Boudeau Samantha(1,2), Ramakodi Meganathan P. PhD(2), Kulathinal Robert J., PhD(1), Ragin Camille, PhD, MPH(2)
       1.Department of Biology, College of Science and Technology, Temple University
       2.Cancer Prevention and Control Program, Fox Chase Cancer Center-Temple University Health System

18.  Understanding the Molecular Origins of Transcriptome Degradation Using Machine Learning

       Judith Rodriguez, M.S. 1,2, Justin Petucci Ph.D. 4, Vasant Honavar, Ph.D 3,4 ,Edward O’Brien, Ph.D. 1,2,4
       1. Huck Institutes of Life Sciences, Pennsylvania State University, University Park, 16802 2. Department of Chemistry,                PennsylvaniaState University; 3. College of Information Sciences and Technology, Pennsylvania State University; 4)                    Institute for Computational and Data Sciences, Pennsylvania State University.

19.  ModTools: a Computational Toolbox for Rapid Detection of DNA Modifications and Replications Using

       Nanopore Sequencing       

       Qian Liu(1); Daniela Georgieva(2); Dieter Egli(2,3); Kai Wang(1,4*)  1. Raymond G. Perelman Center for Cellular and                  Molecular Therapeutics, Children’s Hospital of Philadelphia  2. Naomi BerrieDiabetes Center, Columbia University                      3. Department of Pediatrics and Department of Obstetrics and Gynecology, Columbia University  4. Department of                      Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania

20.  A Random Mutation Model Followed by SARS-coV-2 at Both Nucleotide and Protein Sequence Observed in

       Past 2 Years       

       Nicholas J. Paradis, Phillip M. Lakernick and Chun Wu  Chemistry and Biochemistry Department, Rowan University,

21.  Analysis of microRNA Variants Associated with Neurodevelopmental Disorders in the New Jersey Language and           Autism Genetics Study (NJLAGS) Cohort    

       Anthony Wong(1), Anbo Zhou(1), Xiaolong Cao(1), Vaidhyanathan Mahaganapathy(1), Marco Azaro(1), Christine Gwin(1),         Sherri Wilson(1), Christopher W. Bartlett(2), Judy F. Flax(1), Linda M. Brzustowicz(1,3), Jinchuan Xing(1,3)  1. Department         of Genetics, Rutgers, The State University of New Jersey  2. Battelle Center for Mathematical Medicine, The Research               Institute at Nationwide Children's Hospital  3 .The Human Genetics Institute of New Jersey, Rutgers, The State University           of New Jersey

22.  Exploring the Presence of Endogenous Retroviruses in Chronic Kidney Disease    

       Kelly Ann Mulholland (1,2), Poonam Dhillon (1,2), Hongbo Liu (1,2), Hailong Hu (1,2) , Xin Sheng (1,2), Katalin Susztak (.          1,2) 1.Renal-Electrolyte and Hypertension Division, Department of Medicine 2 .Institute for Diabetes, Obesity, and                        Metabolism, Perelman School of Medicine, University of Pennsylvania

 

 

23.  MSFragger Output Visualization & Evaluation (MOVE): An Interactive Interpretation and Graph Visualization                     Software for Clinical Proteomics Data Sets 

       Lusha Cao, PhD MS(1), Kevin Nestler BS(2), Hossein Fazelinia PhD(1,3), Asif Chinwalla MS(1), Kathrin Bernt                             MD(2,4), Tina Glisovic-Aplenc PhD MS(2,4), Richard Aplenc MD PhD(2,4) 1. Department of Biomedical and Health                     Informatics, Children’s Hospital of Philadelphia, 2. Division of Oncology, Center for Childhood Cancer Research,  Children’s        Hospital of Philadelphia, 3. Proteomics Core Facility, Children’s Hospital of Philadelphia, 4. Department of Pediatrics,                  University of Pennsylvania Perelman School of Medicine

24.  Incorporating Single-cell RNA-sequencing Data from the Developing Heart into the UMLS Knowledge Graph

       (UMLS KG) to Identify Biomarkers of Congenital Heart Disease 

       Shubha Vasisht (1); Ben Stear (1), MS; Taha Mohseni Ahooyi (1), PhD; Deanne Taylor (1,2), PhD  1. Department of                     Biomedical and Health Informatics, Children’s Hospital of Philadelphia  2. Perelman School of Medicine, University of                 Pennsylvania

25.  The Analysis of the 5’ Untranslated region mRNA Secondary Structure of SARS-COV-2 and its Related Genomic             Strains 

       Meeraj Amin and Chun Wu  Chemistry and Biochemistry Department, Rowan University

26.  RNA Modification Enzymes are Mis-regulated in Myotonic Dystrophy Type 1 (DM1)

       Emily Davey(1), Carl Shotwell(1), J. Andrew Berglund(1)

      1. RNA Institute, Department of Biological Sciences, University of Albany

27.  A Semi-Parametric Probabilistic Method for Efficient Clustering of Single-Cell RNA-Seq Data

       Taha Mohseni Ahooyi (1), Benjamin Stear (1), Shubha Vasisht (1), Erin Reichenberger (1), Yuanchao Zhang (1), Deanne             M. Taylor (1, 2) 1. Department of Biological & Health Informatics (DBHi), the Children’s Hospital of Philadelphia

       2. Perelman School of Medicine, University of Pennsylvania

28.  Phenome-Wide Association Study of Actigraphy in the UK Biobank

       Thomas Brooks(1), Nicholas Lahens(1), Gregory Grant(1,2), Garret A. FitzGerald(1), Yvette Sheline(3), & Carsten C.                  Skarke(1)  1. University of Pennsylvania, Institute for Translational Medicine and Therapeutics, 2. University of                            Pennsylvania,    Dept. of Genetics, 3. University of Pennsylvania, Dept. of Psychiatry

29.  Alignment-free Recombination Detection Using Genomic Database Distributions of Exact Protein Matches

       Ahmed M Moustafa(1,2), Arnav Lal(3), Andries Feder(1), Apurva Narechania(4), Paul J. Planet(1,4,5)
       1.Division of Infectious Diseases; 2.Division of Gastroenterology, Hepatology & Nutrition, Children's Hospital of                            Philadelphia, Philadelphia, PA;3.School of Arts and Sciences, University of Pennsylvania; 4.American Museum of Natural            History;5.Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania

30.  Mendelian Randomization Suggests a Causal Relationship Between Beta EEG and Alcohol Use Disorders

       Matthew Shelly(1); Alison Merikangas(1); Laura Almasy L(1,2,3)  1. Department of Biomedical and Health Informatics,                Children's Hospital of Philadelphia; 2. Lifespan Brain Institute of the Children's Hospital of Philadelphia and Penn Medicine;        3. Department of Genetics, Perelman School of Medicine, University of Pennsylvania

31.  Utilizing scRNA-seq to Identify Axonal Guidance Cues in Olfactory Sensory Neuron Development.

       Daniel Barnes M.S., Jonathan Raper Ph.D.  University of Pennsylvania.

32.  Targeted RNA-sequencing Reveals Kikuchi-Fujimoto Disease is Mediated by an Aberrant Type I Interferon                        Response

       Elizabeth Li(1,3), Jason Xu(1), Nya D. Nelson, MD PhD(2), David T. Teachey, MD(1), Kai Tan, PhD(1), Neil Romberg,                  MD(1), Ed Behrens, MD(1), and Vinodh Pillai, MD PhD(2) 
       1. Department of Pediatrics, The Children’s Hospital of Philadelphia; 2. Department of Pathology and Laboratory Medicine,        University of Pennsylvania; 3. Yale School of Medicine

33.  Pilot Study to Explore Correlation Between Gait and Bed Movements

       Xian Li, James Weimer,  George Demiris, Oleg Sokolsky, Insup Lee  University of Pennsylvania 

34.  A Supervised Learning Method for the Classification of Heart Failure Using Electronic Health Record-based 

       Phenotypes

       Nosheen Reza MD(1), William Bone BA(2), Pankhuri Singhal BS(2), Anurag Verma PhD(2), Ashwin C. Murthy MD(1),                Srinivas Denduluri PhD(1),Srinath Adusumalli MD MSc(1), Marylyn D. Ritchie PhD(2), Thomas P. Cappola MD ScM(1)
       1.Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania
       2.Department of Genetics, Perelman School of Medicine, University of Pennsylvania

35.  A Data-driven Analysis of Changes in Anti-seizure Medications After Genetic Diagnosis in 1,598 Individuals with             Genetic Epilepsies

       Julie Xian(1,2,3); Sarah M. Ruggiero(1,2,3); Jillian L. McKee(1,2,3); and Ingo Helbig(1,2,3,4)  1. Division of Neurology,                Children’s Hospital of Philadelphia; 2. The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia;          3. Department of Biomedical and Health Informatics (DBHi), Children’s Hospital of Philadelphia; 4.Department of                          Neurology, Perelman School of Medicine, University of Pennsylvania.

36.  Accurately and Efficiently Rescuing Multi-mapped Reads in ChIP-seq Analysis Pipelines

       Alexis Morrissey(1 )and Dr. Shaun Mahony(1)  1.Pennsylvania State University, Biochemistry and Molecular Biology

37.  Hyperactive Chemotaxis Contributes to Anti-TNFα Treatment Resistance in Inflammatory Bowel Disease

       Tung On Yau(1), Jayakumar Vadakekolathu(1), Benjamin Dickins(1), Christos Polytarchou(1), Sergio Rutella(1)
       1. John Van Geest Cancer Research Centre, Nottingham Trent University, UK

38.  Automated Detection of Genetic Etiology Prior to Diagnosis Using Electronic Medical Records

       Peter D. Galer (1,2,3,4), Shiva Ganesan (1,2,3), Michael Kaufman (1,2,3), Shridhar Parthasarathy (1,2,3), Sarah Ruggiero          (1,3), Stacey Cohen (1,3), Olivia Wilmarth (1,3), and Ingo Helbig (1,2,3,5)  1.Division of Neurology, Children’s Hospital of            Philadelphia. 2.Department of Biomedical and Health Informatics (DBHi). 3. Epilepsy Genetics Initiative (ENGIN), Children’s        Hospital of Philadelphia. 4. Department of Bioengineering, University of Pennsylvania. 5 Department of Neurology,                      University of Pennsylvania, Perelman School of Medicine.

39.  A Customizable Single Cell/nucleus RNA-seq Pipeline

       E. R. Reichenberger(1) & D. M. Taylor(1,2)  1. Department of Biomedical & Health Informatics, Children's Hospital of                  Philadelphia   2. Perelman School of Medicine, University of Pennsylvania

 

40.  UMLS-KG: A biomedical knowledge graph built into the UMLS

       Ben Stear (1), MS; Taha Mohseni Ahooyi (1), PhD;  Shubha Vasisht (1); Jonathan Silverstein (3,4), MD, MS, FACS, FACMI;        Tiffany Callahan (5), PhD; Deanne Taylor (1,2), PhD.  1. Department of Biomedical and Health Informatics, Children's                  Hospital of Philadelphia 2. Perelman School of Medicine, University of Pennsylvania 3. Health Sciences and Institute for              Precision Medicine, University of Pittsburgh 4. Department of Biomedical Informatics, University of Pittsburgh 5. Anschutz          Medical Campus, University of Colorado Denver

41.  MELTRON: Detecting Large-scale Chromatin Decondensation Events from 3D Contact Maps

       Dominik Szabó(1,2,#), Warren Winick-Ng(1,#,*), Alexander Kukalev(1,#), Izabela Harabula(1,2,#), Luna Zea                                Redondo(1,2,#), Mandy Meijer(3), Leonid Serebreni1, Simona Bianco(4), Andrea M. Chiariello(4), Ibai Irastorza-                          Azcarate1,Christoph J.Thieme(1), Thomas M. Sparks(1,2), Sílvia Carvalho(1,5,6,7), Luca Fiorillo(4), Francesco Musella(4),        Ehsan Irani(1,8),Elena Torlai Triglia(1), Aleksandra A. Kolodziejczyk(9,10), Andreas Abentung(11,d), Galina                                  Apostolova(12), Eleanor J. Paul(12), Vedran Franke(13), Rieke Kempfer(1,2), Altuna Akalin(13), Sarah A. Teichmann(9,10),        Georg Dechant(11), Mark A. Ungless(12), Mario Nicodemi(4,8), Gonçalo Castelo-Branco(3,14), Ana Pombo(1,2,8,*)

       1.Epigenetic Regulation and Chromatin Architecture Group, Berlin Institute for Medical Systems Biology, Max-Delbrück               Centre for Molecular Medicine,Berlin, Germany; 2.Humboldt-Universität zu Berlin, Berlin, Germany; 3.Laboratory of                    Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden;            4.Dipartimentio di Fisica, Università di Napoli Federico II, and INFN Napoli, Complesso Universitario di Monte Sant'Angelo,        Naples, Italy; 5.UCIBIO, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de             Lisboa, Caparica, Portugal; 6.Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, Porto, Portugal;                  7.Graduate Program in Areas of Basic and Applied Biology, Universidade do Porto, Porto, Portugal; 8.Berlin Institute of               Health, Berlin, Germany; 9.Cavendish Laboratory, University of Cambridge, JJ Thomson Ave, Cambridge, UK;                            10.Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK; 11.Institute for Neuroscience,                    Medical University of Innsbruck, Innsbruck, Austria; 12.Institute of Clinical Sciences, Imperial College London, London, UK;        13.Bioinformatics and Omics Data Science Platform, Berlin Institute for Medical Systems Biology, Max-Delbrück Centre for          Molecular Medicine, Berlin, Germany; 14.Ming Wai Lau Centre for Reparative Medicine, Stockholm node, Karolinska                  Institutet, Stockholm, Sweden. #These authors contributed equally to this work. *Corresponding authors

42.  HiCHub: A Network-based Approach to Identify Domains of Differential Interactions from 3D Genome Data

       Xiang Li (1), Shuang Yuan (Presenter) (1), Shaoqi Zhu (1), Haihui Xue (2), Weiqun Peng (1)
       1. Department of Physics, George Washington University, Washington DC, 20052  2. Center for Discovery and Innovation,          Hackensack University Medical Center

43.  Entrenchment and Evolution of Drug Resistance in HIV

       Avik Biswas (1,2,), Allan Haldane (1,2), Indrani Choudhuri (1,3 ), Ronald M. Levy (1,2,3)  1. Center for Biophysics and                 Computational Biology; 2. Department of Physics; 3. Department of Chemistry, Temple University

44.  Regulatory Impact of Local Genetic Variance

       In-Hee Lee(1), Sek Won Kong(1,20 1. Computational Health Informatics Program, Boston Children’s Hospital  2.                          Department of Pediatrics, Harvard Medical School

45.  Utilizing Machine Learning to Identify Autism Spectrum Disorder Associated Actimetry Traits

       J Dylan Weissenkampen(1), Arpita Ghorai(1), Jing Zhang(1), ASPE Recruitment team(1), Daniel Rader(1), Ted Brodkin(1),         Laura Almasy(2), Ronnie Sebro(3), Maja Bucan(1)  1. University of Pennsylvania; 2. Children's Hospital of Philadelphia; 3.          Mayo Clinic

46.  The Role of KDM6A/B Histone Methyltransferases in Pancreatic Islet Maturation and Function

       Patrick Van Hoose (1), PhD, Nicholas G. Moss (1 ,2), Amelia Mackarey (2), Anna Briker(2), Klaus H. Kaestner(2), PhD,              Amanda M. Ackermann (1), MD, PhD 1. Department of Pediatrics, Division of Endocrinology and Diabetes, Children's                 Hospital of Philadelphia 22Department of Genetics, University of Pennsylvania Perelman School of Medicine

47.  Determining Disease Co-occurrence Architecture of Hypertensive Heart Disease using longitudinal EHR Data

       Linked with in Penn Medicine BioBank (PMBB) participants

       Pankhuri Singhal (1), Marta Byrska-Bishop (2), Marie A. Guerraty(3), Dokyoon Kim (5,6), Daniel J. Rader (1,3,4,5) Marylyn        Ritchie(1,6,8), Anurag Verma (1,7)  1.Department of Genetics, Perelman School of Medicine, University of Pennsylvania;            2.New York Genome Center; 3.Department of Medicine, Perelman School of Medicine, University of Pennsylvania;                      4.Institute for Translational Medicine and Therapeutics, Perelman School of Medicine, University of Pennsylvania; 5.                    Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania; 6.              Institute of Biomedical Informatics, University of Pennsylvania; 7. Corporal Michael Crescenz VA Medical Center,                        Philadelphia, PA; 8. Center for Precision Medicine, Perelman School of Medicine, University of Pennsylvania

48.  Setd2 Loss Results in Retained Introns that May be Translated

       Marya Kozinova(1) and Alexander Metz(1), Robert N. Uzzo(1,2), JanuszFranco-Barraza(1), Jessica Peskin(1,2), Philip H.          Abbosh(1) 1. Fox Chase Cancer Center, Molecular Therapeutics Research Program; 2. Pennsylvania State University

49.  SpaDecon: Transfer Learning for Cell-type Deconvolution in Spatially Resolved Transcriptomics

       Kyle Coleman(1), Jian Hu1, Amelia Schroeder(1), Edward B. Lee(2), Mingyao Li(1)  1. Department of Biostatistics,                      Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA  2.          Translational Neuropathology Research Laboratory, Department of Pathology and Laboratory Medicine, Perelman School          of Medicine, University of Pennsylvania

50.  Phenotype Driven Approach to Identify Clinically Relevant Patterns in Trio WES Data

       S. Ganesan MS(1,2,3), P.D. Galer MS(1,2,3,4,5), J. Xian BS(1,2,3), S. Ruggiero MS(1,3), K.L. Helbig MS(1,3),

       C.A. Ellis MD.(3,5), I. Helbig MD(1,2,3,5)    Affiliations:  1) Division of Neurology, Department of Pediatrics,

       Children's Hospital of  Philadelphia, Philadelphia, USA; 2) Department of Biomedical and Health Informatics (DBHi),

       Children's Hospital of Philadelphia, Philadelphia, USA; 3) The Epilepsy NeuroGenetics Initiative (ENGIN),

       Children's Hospital of Philadelphia, Philadelphia, USA; 4) Department of Bioengineering, University of Pennsylvania,

       Philadelphia, USA; 5) Department of Neurology, University of Pennsylvania Perelman School of Medicine