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Session
Poster
Poster - Genetic, Genomic, and Epigenomic Annotations, Databases and Resources Posters - Wednesday
Wed, Oct 26
Conv Ctr/Exhibit/Poster Hall/South Building
3:00pm - 4:45pm (Pacific)
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Session Type
Poster
Track
Poster Talk
Reviewers’ Choice
CME
CME/CEUs offered 0
Topic
Genetic‚ Genomic‚ and Epigenomic Annotations‚ Databases and Resources
Keyword
Alternative splicing
Alzheimer’s disease
Autism
Autoimmune disorder
Bioinformatics
Bone/joint abnormalities
Brain/nervous system
COVID-19
Cancer
Clinical history
Clinical testing
Complex traits
Computational tools
Copy number/structural variation
Databases
Diagnostics
Electronic health records (EHRs)
Exome sequencing
Family history
Gene environment interaction
Genetic diversity
Genetic mapping
Genetic testing
Genome sequencing
Genome-wide association
Genomics
Genotype-phenotype correlations
Identification of disease genes
Immune system
Lysosomal diseases
Massively parallel sequencing
Mathematical modeling
Mendelian disorder
Model organisms
Mutation detection
Neurodegeneration
Neurogenetics
Phenome-wide association
Phenotype
Population genetics
Population structure
Precision medicine
Public health
Quantitative trait
RNA
RNA-seq
Rare variants
SNP analysis/discovery
Single-cell
Skeletal system
Somatic Variants
Systems biology
Variant calling
Presentations
Presentation
Poster
A comprehensive analysis of the reusability of public omics data across 2.8 million research publications [Board No. PB3188]
3:00pm-4:45pm Oct 26 (Pacific)
Mohammad Vahed
Presentation
Poster
A comprehensive Japanese genetic variation database TogoVar. [Board No. PB3190]
3:00pm-4:45pm Oct 26 (Pacific)
Toshiaki Katayama
Presentation
Poster
A novel reference architecture for multi-party federation: enabling joint analysis of large-scale clinical-genomic data across distributed Trusted Research Environments. [Board No. PB3192]
3:00pm-4:45pm Oct 26 (Pacific)
Craig Davison
Presentation
Poster
A reference panel composed of Alzheimer’s Disease enriched single-nucleotide and structure variants for structure variants discovery on SNP array data. [Board No. PB3194]
3:00pm-4:45pm Oct 26 (Pacific)
Po-Liang Cheng
Presentation
Poster
ALS/FTD Compute: an open, centralized repository of genomic data for ALS/FTD research [Board No. PB3196]
3:00pm-4:45pm Oct 26 (Pacific)
Bryan Traynor
Presentation
Poster
Assessing the completeness of immunogenetics databases across diverse populations [Board No. PB3198]
3:00pm-4:45pm Oct 26 (Pacific)
Yu Ning Huang
Presentation
Poster
Blockchain and Artificial Intelligence-Enabled Stratified Trial System (BESTS) - A patient driven data sharing platform that leverages genomic and health data to accelerate clinical trial recruitment for precision therapies [Board No. PB3200]
3:00pm-4:45pm Oct 26 (Pacific)
Laura Brady
Presentation
Poster
Brotman Baty Institute Clinical Variant Database (BBI-CVD). [Board No. PB3202]
3:00pm-4:45pm Oct 26 (Pacific)
Andrew Folta
Presentation
Poster
Clinical Variants for Brain Gene Curation: A Powerful and Under-Utilized Resource. [Board No. PB3204]
3:00pm-4:45pm Oct 26 (Pacific)
Maya Chopra
Presentation
Poster
CombVar: A pipeline to combine variant impact from prioritizers, integrators, and annotations [Board No. PB3206]
3:00pm-4:45pm Oct 26 (Pacific)
Alejandro Nato
Presentation
Poster
Distance-based panel generation optimizes gene selection for targeted gene panel design [Board No. PB3208]
3:00pm-4:45pm Oct 26 (Pacific)
Ofer Isakov
Presentation
Poster
Early development of a locus specific database for GUSB, the gene associated with Mucopolysaccharidosis type VII: hints of a higher predicted prevalence. [Board No. PB3210]
3:00pm-4:45pm Oct 26 (Pacific)
Sean Daugherty
Presentation
Poster
Efficient reinterpretation of rare disease cases using Exomiser [Board No. PB3212]
3:00pm-4:45pm Oct 26 (Pacific)
Letizia Vestito
Presentation
Poster
Global landscape of primary omics data generation and its secondary analysis across 193 countries and territories [Board No. PB3214]
3:00pm-4:45pm Oct 26 (Pacific)
Qiushi Peng
Presentation
Poster
HLA-SPREAD: a natural language processing based resource for curating HLA association from PubMed abstracts [Board No. PB3216]
3:00pm-4:45pm Oct 26 (Pacific)
Dhwani Dholakia
Presentation
Poster
Identification and characterization of genomic variations from population scale whole genome sequencing in south India. [Board No. PB3218]
3:00pm-4:45pm Oct 26 (Pacific)
Bratati Kahali
Presentation
Poster
Indiana Biobank: a resource of linked electronic health records, omics data, genetic data, and biospecimens for the research community. [Board No. PB3220]
3:00pm-4:45pm Oct 26 (Pacific)
Dongbing Lai
Presentation
Poster
MANE Select and beyond: expanding the joint NCBI and EMBL-EBI transcript set [Board No. PB3223]
3:00pm-4:45pm Oct 26 (Pacific)
Jane Loveland
Presentation
Poster
MetaMatchMaker: An artificial Intelligence tool for data discovery and meta-data harmonization [Board No. PB3225]
3:00pm-4:45pm Oct 26 (Pacific)
Grier Page
Presentation
Poster
National Center Biobank Network (NCBN) and genomic information for NCBN bioresources. [Board No. PB3227]
3:00pm-4:45pm Oct 26 (Pacific)
Katsushi Tokunaga
Presentation
Poster
North Carolina Macular Dystrophy (NCMD/MCDR1): Analysis of our entire database, a model disease of non-coding mutations. [Board No. PB3230]
3:00pm-4:45pm Oct 26 (Pacific)
Kent Small
Presentation
Poster
Partly Cloudy: analysis of blood lipids across All of Us and UK Biobank demonstrates the promise and limitations of cross-biobank analyses in the cloud [Board No. PB3232]
3:00pm-4:45pm Oct 26 (Pacific)
Margaret Sunitha Selvaraj
Presentation
Poster
PhenX presents Bone and Joint updates and expansion of Social Determinants of Health [Board No. PB3234]
3:00pm-4:45pm Oct 26 (Pacific)
Michelle Krzyzanowski
Presentation
Poster
Rare Disease Phenotyping: What is Next? [Board No. PB3237]
3:00pm-4:45pm Oct 26 (Pacific)
David Adams
Presentation
Poster
Role of Python APIs, Big data and Cloud computing in understanding the Genetic basis of a Disease [Board No. PB3239]
3:00pm-4:45pm Oct 26 (Pacific)
SriRam Murthy
Presentation
Poster
Using the PhenX COVID-19 Collection and Variable Compare Tool [Board No. PB3241]
3:00pm-4:45pm Oct 26 (Pacific)
David Williams
Presentation
Poster
The BaseJumperTMresearch platform for single cell multiomic analysis and interactive visualization [Board No. PB3243]
3:00pm-4:45pm Oct 26 (Pacific)
Victor Weigman
Presentation
Poster
The ClinGen Allele Registry, Linked Data Hub, and Evidence Repository Support Curation Efforts Through Registration of Variants, Aggregation of Supporting Evidence, and Publication of Pathogenicity Classifications [Board No. PB3245]
3:00pm-4:45pm Oct 26 (Pacific)
Kevin Riehle
Presentation
Poster
The International Mouse Phenotyping Consortium: A unique resource underpinning the study of human disease [Board No. PB3247]
3:00pm-4:45pm Oct 26 (Pacific)
Tudor Groza
Presentation
Poster
The One-Sided Matchmaking Platform (OSMP) - Accelerating genomic matchmaking and gene discovery through robust data sharing [Board No. PB3249]
3:00pm-4:45pm Oct 26 (Pacific)
Matthew Osmond
Presentation
Poster
TT-Mars: structural variants assessment based on haplotype-resolved assemblies [Board No. PB3251]
3:00pm-4:45pm Oct 26 (Pacific)
Jianzhi Yang
Presentation
Poster
Variant reclassification based on the allele frequency information from exome sequencing data of 20,455 patients enriched with under-represented populations. [Board No. PB3253]
3:00pm-4:45pm Oct 26 (Pacific)
Kisang Kwon
Presentation
Poster
VuTR: Visualising the consequences of high-impact 5’ UTR variants [Board No. PB3255]
3:00pm-4:45pm Oct 26 (Pacific)
Elston Dsouza
Presentation
Poster
Web-CSEA: Web-based Cell-type-Specific Enrichment Analysis of Genes [Board No. PB3257]
3:00pm-4:45pm Oct 26 (Pacific)
Yulin Dai