Genome Informatics
November 3 - 5, 2021

You must register for the meeting in order to submit abstracts.
After registering you will be sent a web link for abstract submission by email.
You may copy and paste your abstract from Word, Google Docs, or Notepad; abstracts are limited to ~2900 characters.

Virtual Meeting program informationAn preliminary PDF of the program abstract book will be sent approximately 5 days prior to the first day of the meeting.  The final, hyperlinked abstract book will be available for download on the first morning of the meeting.

**Please check your email for the length of your talk, poster instructions, links to the webinar, and how to prepare and submit your poster PDF for the virtual poster session. 

Abstract Status

Presenting Author

Abstract Title

Talk/Poster

Ahmed, Omar J

Pan-genomic indexes for robust classification of nanopore and metagenomics reads

talk

Akagi, Keiko

Resolution of genomic structural variation at the MYC locus “hotspot” for human papillomavirus (HPV) integration in human cancers

poster

Alam, Aqsa S

Deep representation learning to predict function in non-coding regulatory regions

poster

Alvarez Jarreta, Jorge

Deep learning homology relationships in an ever-growing environment

talk

Andreu Sanchez, Sergio

Genetic, parental and lifestyle factors influence telomere length

poster

Baali, Ilyes

Predicting in-vivo binding preferences of RNA-binding proteins using transfer learning

poster

Baghela, Arjun

Predicting sepsis severity at first clinical presentation—The role of endotypes and mechanistic signatures

poster

Baker, Daniel N

Dashing2—Scalable and flexible similarity search for genomic collections using locality-sensitive hashing and the SetSketch

talk

Balliu, Brunilda

Fast and powerful statistical method for context-specific eQTL mapping in multi-context genomic studies

talk

Barreira, Sofia

Determining the evolution history of the metazoan nucleolar transcription factor and its contribution to regeneration

poster

Behera, Sairam

Comprehensive genomics at scale using DRAGEN pipeline

poster

Berk, Katrin

Functionalization, adaptation and gain/loss dynamics of human de novo genes

poster

Blaxter, Mark

Telomere to telomere genomes across the Tree of Life

talk

Bollas, Audrey E

A machine learning approach to detect somatic variants in tumor RNA-Seq

poster

Bradshaw, III, Michael

CNViz—A tool for the integration and visualization of multiple CNV callers

poster

Brechtmann, Felix

A rare variant risk score (RVRS) and its utility for gene prioritization

poster

Bretschneider, Hannes

A splicing code reveals an expanded landscape of brain microexons with direct genetic links to autism

talk

Brover, Vyacheslav

Novel tool to build large phylogenetic trees with applications to NCBI genomes and rRNA sequences

poster

Brown, Stuart L

Complex structural variants in high grade serous ovarian cancer

poster

Cain, Scott

JBrowse 2—A data visualization platform with special features for comparative genomics and structural variant visualization

poster

Callejas Hernandez, Francisco

Long-read and Hi-C sequencing of a bird parasite closely related to the human sexually transmitted parasite Trichomonas vaginalis for accurate transposable element assembly

poster

Canzar, Stefan

Ladder-seq partitions RNA-seq reads to improve transcriptome reconstruction and reveals a critical role of m6A as a regulator of alternative splicing in neural progenitor cells

talk

Celik, Muhammed Hasan

Analysis of alternative polyadenylation from long-read or short-read RNA-seq with LAPA

poster

Chen, Chujia

Marker-assisted mapping enables forward genetic analysis in Aedes aegypti, an arboviral vector with vast recombination deserts

poster

Chen, Nae-Chyun

Fast and accurate coordinate conversion between assemblies

poster

Chen, Yang

DiffChIPL: A Differential binding analysis method based on limma for ChIP-seq data featuring biological replicates

poster

Chen, Ying

A systematic benchmark of Nanopore long read RNA sequencing for transcript level analysis in human cell lines

poster

Cheng, Haoyu

Robust haplotype-resolved assembly of diploid individuals without parental data

talk

Chin, Jason

Boosting GWAS sensitivity and computational efficiency with word embedding vectors

poster

Choi, Jinlyung

MTxQC—Flexible and automatic metagenomics/metatranscriptomics quality control service for Next Generation Sequencing(NGS) shotgun sequencing data in AWS cloud

poster

Chougule, Kapeel M

Identifying protein coding genes in Maize using a hybrid annotation workflow

poster

Chu, Justin

Sequence classification of short read sequence data to the of complex regions in the Human Pangenome

poster

Colomé-Tatché, Maria

Analysis and integration of single cell epigenomics data

talk

Conesa, Ana V

Combining long-read and single-cell RNA-seq to infer isoform co-expression networks reveals splicing regulation as a key determinant in cell type identity

talk

Cook, Daniel E

DeepConsensus—Using transformers for long-read consensus generation

poster

Darmofal, Madison

Clinically-implemented targeted genomic panels support better tumor type classification than pre-clinical technologies

poster

Das, Arun

Analysis of sketching and sampling approaches for fast and accurate long read classification

poster

De La Vega, Francisco

Accurate germline variant calling from RNA-seq data using deep learning

poster

Desai, Jairav

The Precision Health Cloud—Tackling the challenges of big data in precision medicine

poster

Duncan, Andrew

Sequence features distinguish STARR-seq enhancer activity from activity in a native chromatin context

poster

Engelhardt, Barbara

Structured dimension reduction for single cell observations

talk

Feng, Xiaowen

Metagenome assembly with Hifi reads

talk

Fischer, Stephan

Performance curvature meta-analysis characterizes the generalizability of computational inference of gene function

poster

Franklin, Samuel J

Short tandem repeat characterization in a cohort of rare diseases families

poster

Gagalova, Kristina

Genome size expansion in the North American forest pest, Pissodes strobi, and evidence of a Wolbachia endosymbiont

poster

Ghotra, Rohan S

Interpreting motif interactions from self-attention-based networks for regulatory genomics

poster

Goktas, Talha Murathan

LINKS 2.0—Optimized alignment-free and scalable de novo genome scaffolding with long reads

poster

Gonzalez, Josefa

Population-scale long-read sequencing uncovers transposable elements contributing to gene expression variation and adaptation in Drosophila

talk

Goodman, Jack

Estimation of metabolic activity profiles across tissues of origin via aggregate and single-cell RNA-seq improve survival prediction

poster

Green, Anna G

Genome-wide detection of mutational dependence in naturally evolving Mycobacterium tuberculosis  populations

talk

Greenberg, Grant

A TNF-based orientation test to improve bacterial genome assembly

poster

Groza, Cristian

Genome graphs detect human mobile element polymorphisms in active epigenomic states

poster

Guijarro, Cristina

Ensembl comparative genomic resources—Supporting large scale genome sequencing projects

poster

Hafezqorani, Saber

ntEmbd—Deep learning embedding for nucleotide sequences

poster

Haghani, Viktoria

Rocketchip—A comprehensive bioinformatics workflow for ChIP-seq data analysis

poster

Halabian, Reza

DNA transductions mediated by non-LTR retroelements in the complete human genome (T2T-CHM13)

poster

Harrigan, Caitlin

Dirichlet allocation of mutations as a function of both damage and DNA repair

talk

Harris, Benjamin

A meta-analytic single-cell atlas of mouse bone marrow hematopoietic development

poster

He, Zitong

Predicting alternative splicing regulation and the effects of sequence variation with a Probabilistic Deep Learning model

poster

Heidari, Elyas

Spatial reconstruction of dissociated single-cell data using graph neural networks

talk

Hitz, Benjamin C

Functional impact of genomic variation—The latest consortium for  functional genomics

poster

Holmes, Edward

Viral metagenomics at the human-animal interface

talk

Hu, Zhiqiang

Biological discovery and consumer genomics activate latent privacy risk in functional genomics data

poster

Huang, Yue

Increased burden of somatic mutations in Alzheimer’s disease revealed by single neuron whole-genome sequencing

talk

Imami, Ali S

BORE—Detecting RNA editing events comfortably

poster

Iqbal, Zamin

Variant analysis in bacterial pan-genomes---New solutions and open problems

talk

Jenike, Katharine M

HetTrek—Improving assembly accuracy and contiguity of highly heterozygous genomes

poster

Jimenez-Barron, Laura T

Identification of in vitro model systems capable of capturing the polygenic basis of mental illness

poster

Jin, Xiaofan

Phylogenetic models identify genetic basis of spatial structure in microbial communities

poster

Kamps-Hughes, Nicholas

Sensitive detection of pathogenic splice variants from human blood samples

poster

Kaphle, Anubhav

A better model for SNP-heritability and genomic prediction

poster

Karbalayghareh, Alireza

Chromatin interaction aware gene regulatory modeling with graph attention networks

talk

Katz, Samuel

An integrated method for gene prioritization and a statistical model for isoform ratios reveal splice variant selectivity as a critical regulator of the macrophage inflammatory state

poster

Kawaji, Hideya

Unified identification of transcribed cis-regulatory elements

talk

Kempa, Dominik

Speeding up the construction of pangenome data structures

talk

Khan, Samin R

A deep learning model reveals sequence signatures associated with DNA bendability and links bendability-altering mutations with aberrant chromosomal conformation

poster

Kim, Sandy S

Model-driven optimization of high-throughput in vivo CRISPR screen design

poster

Kinney, Justin B

Learning genotype-phenotype maps from multiplex assays of variant effect using neural networks

poster

Kirsche, Melanie

Jasmine—Population-scale structural variant comparison and analysis

poster

Kosiol, Carolin

Genome-wide estimation and dating of species trees—Polymorphism-aware phylogenetic models meet RevBayes

poster

Kovaka, Sam

Visualization and analysis of nanopore RNA and DNA signal alignments for modification detection, polishing, enrichment, and more with Uncalled4

poster

Kucukural, Alper

Dmeta—Automated data processing and management using ontology-based metadata tracking system

poster

Kulman, Ethan

Pairtree—Accurate reconstruction of cancer evolution using bulk DNA samples

poster

Kumar, Vivek

From sequences to functional-, comparative- and meta- genomics: Advancing systems biology of plants, microbes and their communities in KBase

poster

Labelson, Ethan L

Towards reliable explanations of deep neural network predictions in regulatory genomics

poster

Ladewig, Erik

Mutations in FOXA1 alter chromatin remodeling and cell fate in prostate organoids

poster

LaHaye, Stephanie D

EnFusion—Discovery of clinically relevant fusions in pediatric cancer

poster

LaPierre, Nathan

Accounting for isoform expression in eQTL mapping

poster

Lariviere, Delphine

Enabling widespread use of Vertebrate Genome Project assembly pipeline by integration into Galaxy

poster

Lee, Nicholas

Representation learning of genomic sequence motifs via information maximization

poster

Leslie, Christina S

Advances in predictive models for regulatory genomics

talk

Li, Xuechan

Robust explainable method to identify immune-related genes that predicts cancer survival

poster

Li, Yue

Transfer learning of interpretable cellular and gene signature embeddings from single-cell transcriptomic data in diverse conditions

poster

Liebhoff, Anna

Computational prediction of epitopes from protein sequences

poster

Lin, Mao-Jan

Profiling germline adaptive immune receptor repertoire with gAIRR Suite

poster

Lin, Michael

SQLite—Grand unified genomics file format?

poster

Lind, Abigail

Eukdetect: Accurate and sensitive detection of microbial eukaryotes from whole metagenome shotgun sequencing

poster

Linderman, Michael

Machine-learning approaches to structural variant genotyping in whole genome sequencing data

poster

Listgarten, Jennifer

Machine learning-based design of proteins

talk

Lu, Alex X

Discovering molecular features of the intrinsically disordered proteome by using evolution for contrastive learning

poster

Lyudovyk, Olga

Deep Learning model of T-cell recognition of antigens and its applications in cancer

poster

Madden, Tom

Cloud-based BLAST resources from the NCBI

poster

Mahmoud, Medhat

Long read based identification of HPV integration mediated molecular structure

poster

Manske, Felix

High-performance microbiome analysis with MetaG

poster

Manukyan, Artur

Dprofiler—A comparative profiling platform for diseases, phenotypes and experimental conditions

poster

Marschall, Tobias

Structural variation and pangenome-based genome inference

talk

Minto, Melyssa S

Beyond PWMs—Modeling sequence in context to reveal the multimodality of transcription factor binding and activity

poster

Mokrab, Younes

Analysis of Qatari population genomes and transcriptomes provides novel insights into functional consequences of Middle Eastern genetic variation and their impact on human traits and disease

poster

Mokrab, Younes

Ancestry prediction in Middle Eastern populations using deep neural networks

poster

Mokrab, Younes

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

poster

Mokrab, Younes

Using long-reads sequencing and optical mapping to generate genome references for Arab populations

poster

Moreland, Blythe S

Information theoretic analysis of synonymous codon usage offers metrics to assess constraint on synonymous variants

poster

Morgan, Mike

Milo—Differential cell state abundance testing using kNN-graphs

talk

Muralidharan, Harihara Subrahmaniam

Comparative metagenomic genome analysis of Synechococcus spp. in microbial mats across a temperature gradient in hot springs from Yellowstone National Park

poster

Nachmanson, Daniela

Characterization of genetic heterogeneity and clonal evolution in ductal carcinoma in situ

poster

Narechania, Apurva

Is your species like my species? Using Hill numbers to quantify taxonomic diversity

talk

Nash, Eric B

Tools to facilitate student metabarcoding research

poster

Navarro Gonzalez, Jairo

UCSC Genome Browser in the cloud

poster

Ni, Bohan

Modeling the effects of rare structural variants on gene expression across multiple tissues

poster

Nurk, Sergey

Telomere-to-telomere assembly of human chromosome Y

poster

Oguz, Cihan

High throughput sequencing of T and B cell receptors in healthy controls, and MIS-C and COVID-19 patients reveals predictive immune repertoire and HLA restriction signatures

poster

Olson, Andrew

TBrowse—A modular gene tree viewer for exploring functional conservation

poster

Otero Bravo, Alejandro

Additional filtering for somatic variants derived from FFPE tumor samples

poster

Pagadala, Meghana

Germline variants that influence the tumor immune microenvironment also drive response to immunotherapy

poster

Penaloza, Jacqueline S

Analysis of copy number variants in more than 1,300 patients with congenital heart disease

poster

Perez Fernandez, Cesar A

Microbial endolithic communities are resilient to dramatic changes in humidity and temperature at the Atacama Desert, Chile

poster

Phillippy, Adam M

The complete sequence of a human genome

talk

Pipes, Lenore

Estimation of the composition of SARS-CoV-2 lineages in wastewater surveillance samples

poster

Prinster, Andrew J

Assessing statistical significance and confidence of exogenous read taxonomic assignments and quantifications in exceRpt, the extracellular RNA sequencing pipeline

poster

Przytycki, Pawel F

CellWalker integrates single-cell and bulk data to resolve regulatory elements across cell types in complex tissues

poster

Qiao, Jingping

Evolutionary history and molecular heterogeneity of primary breast cancer

talk

Ramakrishnan, Srividya

Reconstructing the genome of the living fossil conifer Wollemia nobilis using ONT long-read sequencing technology

poster

Ramos, Enrique I

Functional characterization of estrogen-regulated divergent long noncoding RNAs in estrogen receptor-positive breast cancer

poster

Rao, Jingyou

Quantifying uncertainty in estimation of isoform expression heritability

poster

Redekar, Neelam R

Multiomics integration to investigate the role of insulin within energy dysregulation in Hepatitis C and associated liver disease

poster

Reisinger, Raquel M

Data mining pedigrees with Probabilistic Graphical Models (PGMs)—A new tool for genetic disease discovery

poster

Rhie, Arang

Merfin—Improved variant filtering and polishing via k-mer validation

poster

Rich, April A

Exploring the unknown translatome using massively integrated coexpression analysis

poster

Richardson, Mary O

A computational method to detect non-canonical translation events from Ribo-seq data

talk

Rodriguez, Matias

Comprehensive analysis of transposable elements in 65 Apicomplexa genomes

poster

Rossi, Massimiliano

MONI-align—A Pangenomics read aligner

poster

Rozowsky, Joel

Integrative tools for the analysis of allele-specific behavior in multiple human tissues

poster

Saheb Kashaf, Sara M

Integrating cultivation and metagenomics for a multi-kingdom view of skin microbiome diversity and functions

poster

Salmela, Leena

Paired de Bruijn graphs meet viral quasispecies assembly

talk

Samartin Botezelli, Vitoria

In embryo and in silico mapping of gene regulatory networks during commitment of sensory neurons

poster

Saunders, Christopher T

Rapid and accurate genome-wide STR catalog genotyping

poster

Schatz, Michael

Modeling the computing requirements and costs for genomics analysis in the cloud

poster

Scheben, Armin

Long-read sequencing reveals rapid evolution of immunity- and cancer-related genes in bats

poster

Schneider, Kristen

Enabling biobank-scale GWAS data sharing with efficient compression and indexing

poster

Schuetz, Robert

Evaluation and optimization of a clinical support algorithm for rapid identification of pathogenic variants

poster

Sedlazeck, Fritz J.

A genomic structural variant map of 945 Han Chinese individuals using long-read sequencing data

poster

Shafin, Kishwar

Accurate small and structural variant calling with nanopore long-read sequencing data

talk

Shulgina, Yekaterina

A computational screen for alternative genetic codes in over 250,000 genomes

talk

Silk, Ryan P

Mitochondrial dysfunction and dynamics in high grade serous ovarian cancer

poster

Sim, Andre D

Context-aware quantification of transcript expression with long read RNA-seq

poster

Singh, Kritika

Investigating the shared functional biology of major depressive disorder and coronary artery disease reveals immune and inflammatory markers as a possible driver of the comorbidity

poster

Singhal, Pankhuri

Genome-wide inter-chromosomal epistatic associations identified across complex diseases in ~300,000 participants from eMERGE and UK Biobank

poster

Smith, Jonathan T

A 20x yield increase in accurate, full-length RNA sequencing data

talk

Stark, William

A machine learning approach to gene symbol assignment

poster

Teer, Jamie K

Workflow for all vs. all genotype comparison for quality control of massively parallel DNA and RNA sequencing data

poster

Thibaud Nissen, Francoise

New developments in PGAP and RAPT—H\how you can produce a richer gene annotation for bacterial and archaeal isolates even faster

poster

Thybert, David

Scaling whole-genome multiple alignment resources in Ensembl

poster

Tilgner, Hagen U

Brain Isoforms in time, space and single cells

talk

Tseng, Elizabeth

Allele-specific, isoform-resolution single-cell RNA-seq analysis using long read sequencing on concatenated single-cell molecule

talk

Vorperian, Sevahn K

Cell types of origin in the cell free transcriptome in human health and disease

poster

Wagner, Nils

Aberrant splicing prediction across human tissues

poster

Wang, Xiaotao

Genome-wide detection of enhancer-hijacking events from chromatin interaction data in rearranged genomes

poster

Wei, Xiaoran

DNA methylation regulates TrkB isoform expression in CNS

poster

Weissensteiner, Matthias H

Motifs with non-B DNA forming potential affect accuracy and yield of major sequencing technologies

poster

West, Sean

A comparison of RNA secondary structure prediction tools

poster

Wheeler, Gregory L

A combined ensemble and machine learning method for improved accuracy of structural variant detection

poster

Wu, Thomas

Transcriptome-guided genomic alignment

poster

Xiao, Chunlin

Development and benchmarking of a SARS-CoV-2 Oxford Nanopore variation calling workflow

poster

Xue, Bingjie

BEDbase—A unified platform and API for genomic region sets

poster

Yankee, Tara

Transcriptome dynamics of developing human face reveal candidate disease genes

talk

You, Yupei

NanoSplicer—Accurate identification of splice junctions using Oxford Nanopore sequencing

poster

Zarate, Samantha

A complete reference genome improves analysis of mapping and variant calling across populations

talk

Zhang, Haowen

Fast alignment and preprocessing of chromatin profiles with Chromap

poster

Zhang, Haowen

Real-time mapping of nanopore raw signals

poster

Zimin, Alexey

A reference-quality, fully annotated genome from a Puerto Rican individual

poster