Genome Informatics
November 6 - 9, 2019

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.

Program information: An electronic version of the program abstract book will be sent three working days prior to the first day of the meeting, and hard copies will be available for collection upon your arrival at Cold Spring Harbor Laboratory. First night and keynote speakers are informed of their session date and time, otherwise program information is only available upon release of the electronic version of the abstract book. The reason we do this is to try and maximize interactions by encouraging participants to stay for the duration of the meeting.

Please check your email for talk length, poster instructions, and how to have your poster printed at CSHL for collection upon arrival. 

Abstract Status

Presenting Author

Abstract Title

Talk/Poster

Aganezov, Sergey

Inferring clone- and haplotype-specific chromosomal organization in rearranged cancer genomes with multiple sequencing technologies

talk

Alonge, Michael

Long-read sequencing reveals the structural variant landscape in tomato

poster/lightning talk

Arbel, Hamutal

Evaluation of modern approaches for the complex trait prediction using genetic data

poster

Ballinger, Tracy J

Are double strand breaks associated with collisions between replication and transcription machineries?

poster

Balsubramani, Akshay

Multi-resolution, interactive, atlas-scale integration of single-cell assays and experiments

talk

Barreira, Sofia N

Exploring the role of ribosomal gene repeats in the context of regeneration

talk

Bennett, Christopher

Genomeworks suite—Accurate genotyping and practical diploid genome assembly guided with known genome sequences

poster

Benoodt, Lauren

Context specific network topologies derived from knowledge and transcriptomic data

poster

Bentsen, Mette S

Beyond accessibility—ATAC-seq footprinting analysis reveals dynamics of transcription factor binding during preimplantation development

talk

Berakdar, Fadel M

novoSplice—A gene, splice and quality aware RNA-seq aligner

poster

Berg, Jordan A

XPRESSyourself—Enhancing, standardizing, and automating ribosome profiling computational analyses yields improved insight into data

poster/lightning talk

Blankenberg, Daniel J

An integrative environment for microbiome analysis and visualization

poster

Blibaum, Ash

Mercury—High quality visualization and reproducible exploratory analysis of scRNA-seq data

poster

Blibaum, Ash

ProtoCell—Automated identification of cell types in single-cell RNA-seq data using prototypical neural networks

poster

Booeshaghi, Ali Sina

Algorithms and Infrastructure for accurate pre-processing and analysis of single-cell RNA-seq

poster/lightning talk

Brennan, Patrick J

Tumor-only detection of MSI using machine learning in endometrial cancer patients

poster

Brown, Stuart L

Transcriptional and clinical impact of chromothripsis

poster

Budurlean, Laura

Rare germline variants may explain increased susceptibility to inherited breast cancer

poster

Busby, Ben

Enabling federated data access with hackathon-based indexing principles

poster

Bzikadze, Andrey

centroFlye—Assembling centromeres with long error-prone reads

talk

Cameron, Daniel L

Unscrambling the tumor genome via integrated analysis of structural variation and copy number

talk

Cartwright, Reed A

Estimating mutation rates and processes in non-model and emerging model organisms

poster

Castro Pacheco, Nathan

Quantifying isoform expression in single-cell RNA-seq data with STARsolo-Quant

talk

Chamberlin, John

Intronic reads impart systematic bias on expression estimates in droplet single cell RNA-seq

poster/lightning talk

Chen, Chujia

Assembling the Y chromosomes of anopheles mosquitoes

talk

Chen, Nae-Chyun

Improving linear alignment accuracy and reducing bias using reference flow

poster/lightning talk

Chen, Xi

Tissue-specific enhancer functional networks for associating distal regulatory regions to disease

talk

Cheng, Haoyu

Haplotype-resolved de novo assembly with accurate long reads

poster

Chougule, Kapeel M

Characterizing genetic and transcript variation using long single molecule sequencing in maize

poster

Chu, Chong

xTEA—A transposable element insertion analyzer for genome sequencing data from multiple technologies

poster

Clawson, Hiram

REST API interface for the UCSC Genome Browser

poster

Conesa, Ana V

The functional iso-transcriptomics analysis framework to assess the functional impact of alternative isoform usage

talk

Cowley, Lauren

The use of kmer counts to train random forests to predict country of origin for bacterial pathogen sequencing data

talk

Crow, Megan

Predictability of human differential gene expression

poster

Dahiya, Daisy

Deconvolution of origins of replication

poster

Darby, Charlotte

Vargas—Heuristic-free alignment for assessing linear and graph read aligners

poster

Dashnow, Harriet

Exploring short tandem repeat expansions at both known and novel loci in the human genome

talk

Davila, Jaime I

RNA-seq mutational signatures allow quantification of expressed tumor mutational burden from clinical samples

poster

Dawes, Ruebena

Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

poster

Demirdjian, Levon V

Detecting allele-specific alternative splicing from population-scale RNA-seq data

poster

Dhingra, Priyanka

Using machine learning to automatize antisense oligonucleotide target discovery and design

poster

Di Genova, Alex

WENGAN—Efficient and high quality hybrid de novo assembly of human genomes

poster

Dilthey, Alexander T

Strain-level metagenomic assignment and compositional estimation for long reads with MetaMaps

talk

Dobin, Alexander

STARsolo—Single cell RNA-seq data analysis beyond gene expression

poster

Dong, Shengcheng

Prediction of regulatory SNPs affecting transcription factor binding using RegulomeDB

poster

Dou, Yanmei

MosaicForecast—Accurate detection of mosaic variants in sequencing data without matched controls

poster

Eichler, Evan

Long-read sequencing of structurally variant genomes

talk

Evans, Jared M

Calling, filtering, and evaluating de novo variants in whole genome sequencing from HLHS families

poster

Fahmi, Naima Ahmed

AS-Quant—Detection and visualization of alternative splicing events with RNA-seq

poster/lightning talk

Fan, Yunfan

Genome and transcriptome assembly of Candida nivariensis using r9 and r10 type ONT sequencing flowcells

poster

Fredenburg, Jacob D

Early life exposure to TCDD alters the chromatin landscape across the life course

poster

Friedberg, Iddo

The CAFA challenge reports improved protein function prediction and new functional annotations for hundreds of genes through experimental screens

poster

Gabitto, Mariano

Elucidating the chromatin landscape of cortical interneurons

poster

Gaither, Jeff

SNPDogg—Transparent pathogenicity assessment for missense variants

poster

Gangavarapu, Karthik

Genomic epidemiology of West Nile virus in California

talk

Garcia Giron, Carlos

Representing multiple assemblies per species in Ensembl

poster

Garcia Mesa, Juan J

Novel models for identifying artifacts in genomic datasets

poster

Garg, Shilpa

Efficient chromosome-scale haplotype-resolved assembly of human individuals

talk

Ge, Weihao

A novel engine to build multi-locus epistatic model in complex diseases

poster

Gerstein, Mark

Enhancing open data sharing for functional genomics experiments—Measures to quantify genomic information leakage & identify file formats for privacy preservation

poster

Gilpatrick, Timothy

Targeted Nanopore sequencing with Cas9 for studies of methylation, structural variants, and mutations

talk

Glusman, Gustavo

Analyzing personal genomes, phenomes and electronic health records at scale

poster

Goeke, Jonathan

Long read Nanopore RNA-sequencing of the cancer transcriptome

poster

Gong, Sung Sam

The RNA landscape of the human placenta in health and disease

poster

Gong, Tingting

Refining somatic structural variant detection and annotation for precision oncology

poster/lightning talk

Gottimukkala, Rajesh Kumar

Detection of gene fusions and exon deletion events in FFPE samples using next generation targeted sequencing assays

poster

Groza, Cristian

Personalized and graph genomes reveal missing signal in epigenomic data

poster/lightning talk

Guidi, Giulia

BELLA—Berkeley efficient long-read to long-read aligner and overlapper

poster/lightning talk

Hanage, William

Is pathogen evolution predictable? The role of population genomics

talk

Hardwick, Simon A

Targeted, high-resolution RNA sequencing of non-coding genomic regions associated with neuropsychiatric functions

poster

Hejase, Hussein

A recurrent neural network for inferring sweeps and allele frequency trajectories using gene trees based on the ancestral recombination graph

talk

Hercus, Colin F

Novoalign performance optimization

poster

Hill, Abby S

Prevalence estimates of rare diseases derived from population allele frequencies are sensitive to key assumptions

poster

Hirose, Naoki

Functional annotation of non-coding regions in the genome of non-human primates

poster

Hitz, Benjamin

RegulomeDB 2.0

poster

Huang, Yifei

Unified inference of missense variant effects and gene constraints in the human genome

poster

Hunt, Toby

TAGENE—An annotation pipeline to integrate long read transcriptomic data into GENCODE

poster

Jain, Chirag

Sequence to graph alignment—Computational complexity and algorithms

poster

James, Corey

Modulating cellular adaptive response via the Nrf2 pathway in rat primary hepatocytes

poster

Joglekar, Anoushka

Enhanced interpretation of single cell isoform RNA sequencing (ScISOr-Seq) reveals highly distinct
programs affected by alternative splicing in the developing mouse brain

poster/lightning talk

Jongeneel, Patrick M

Improved tumor-only somatic variant calling using gradient boosted decision trees

poster

Kahles, Andre

Metagraph—Representing massive data sets at scale

poster

Kaminow, Benjamin

Creating pan-human and population-specific consensus representations of the reference genome and assessing their effect on functional genomic data analysis

talk

Kasukawa, Takeya

refTSS—A reference dataset of human and mouse transcription start sites

poster

Keener, Nicholas

Analysis of sequence variants in non-diploid systems at scale—New results from existing data

poster

Kirsche, Melanie

IRIS: Improved structural variant calls

poster/lightning talk

Kitts, Paul

Using average nucleotide identity to correct taxonomic assignments in genomes at the NCBI

poster

Kleinert, Philip

CADD-SV—A framework to score the effect of structural variants in health and disease

poster/lightning talk

Kolmogorov, Mikhail

metaFlye—Scalable long-read metagenome assembly using repeat graphs

talk

Koren, Sergey

Assembly featuring exact-match overlaps of homopolymer-collapsed HiFi reads improves haplotype separation and repeat resolution

poster

Kovaka, Sam

Rapidly mapping raw nanopore signal with UNCALLED to enable real-time targeted sequencing

talk

Kuck, Harkness

Varhouse—A scalable, serverless warehouse for variant interpretation

poster

Kumar, Vivek

Integrative analysis of multi-omics datasets to accelerate scientific discovery using Systems Biology Knowledgebase, KBase

poster

Kwan, Harwood

The POG570 cohort—An inquiry into the genomic landscape of treated advanced tumors

poster

LaHaye, Stephanie D

Utilization of an ensemble approach for identification of driver fusions in pediatric cancer

talk

Langhorst, Bradley W

Correcting methylation calls in low-mappability regions

poster

Langmead, Ben

Genomic sketching with HyperLogLog

talk

Lariviere, Delphine M

Devising best practices for the analysis of transposon insertion sequencing data

poster

Lasseigne, Brittany N

Integrative analysis of copy number burden and prediction across human cancers

poster

Le Roch, Karine G

Comparative 3D genome organization in Apicomplexan parasites

talk

Lee, Isac

Methylation and chromatin accessibility analysis using long-read sequencing

poster

Lesack, Kyle

Structural variation in naturally occurring isolates of Caenorhabditis elegans

poster

Lewis, Wesley R

Exploration of subtype-level immune cell classification via the prototypical neural network model Protocell

poster

Li, Danxun

Understanding inflammation in the gut by chromatin accessibility

poster

Li, Heng

The construct and utility of reference pan-genome graphs

talk

Lin, Khine Zin

ENCODE Data on the Cloud

poster

Lin, Kuan-Ting

PSI-Sigma—A comprehensive splicing-detection method for short-read and long-read RNA-seq analysis

poster

Lin, Pei

From benchwork to analyses, an integration of structured data into cloud-based analysis pipelines

poster

Lleras, Roberto A

Comprehensive variant detection in a human genome with highly accurate long reads

poster

Loh, Jui Wan

All-FIT—Allele-frequency-based imputation of tumor purity from high-depth sequencing data

poster/lightning talk

Lu, Jennifer

Fast and accurate 16S microbial community analysis using Kraken 2

poster

Lu, Jennifer

Identifying mis-assembled bacterial genomes using GC Skew

poster

Lu, Jinfeng

A new short tandem repeat realignment pipeline allowing simple customized query designed for high accuracy, reliability, and compatibility

poster

Lu, Shaina

Pairing gene expression and spatial location to learn whole brain patterns of transcription

poster/lightning talk

Lu, Zhenyuan

SciApps.org—A cloud-based platform for reproducible bioinformatics workflows

poster

Mahmoud, Medhat

PRINCESS—A framework for comprehensive detection and phasing of SNPs and structural variants

talk

Marwaha, Shruti

Phenotype driven variant prioritization for rare diseases

poster

Mateos, Raul N

Somatic mutation status prediction by a splicing-alteration-based machine learning technique

talk

McGaughey, David M

Integrated analysis of all publicly available ocular scRNAseq datasets

poster

Melsted, Pall

Kallistoscope—A graphical user interface for analysis of single-cell RNA-seq with kallisto and bustools

poster

Mijalkovic, Sanja

Somatic variant calling benchmarking

poster

Miller, Brendan F

A methylation density binary classifier for predicting and optimizing the performance of methylation biomarkers in heterogeneous clinical samples

poster

Miller, Jeremiah

Untangling the genetic basis of the web-building behavior in the spider Uloborus diversus

poster

Miller, Katherine E

Transcriptomic analysis of pediatric brain tumors to characterize immune cell infiltration in the tumor microenvironment

poster

Mirhaj, Fahimeh

STAR-Splice-Graph—Accurate spliced alignment of long noisy reads

poster

Mitra, Ramkrishna

Concordant dysregulation and cooperation of both microRNA strands is selected for during tumorigenesis

poster

Molik, David

met—A web application tool and framework for the extensive comparison of metagenetic datasets

poster/lightning talk

Monlong, Jean

Genotyping structural variants in pangenome graphs using the vg toolkit

talk

Moreland, Blythe S

Determining the contribution of codon usage and RNA stability to predicting synonymous and intronic variant pathogenicity and impact on splicing

poster

Morrow, Alyssa K

Mango—Data exploration on large genomic datasets

poster/lightning talk

Morton, James

Learning representations of microbe-metabolite interactions

poster

Moss, Alexander C

Scoring metric for quantitative measure of phenotype similarity

poster

Mousavi, Nima

A pipeline for genome-wide genotyping, filtering, and prioritization of tandem repeats

poster/lightning talk

Moustafa, Ahmed M

WhatsGNU—A tool for identifying proteomic novelty

poster

Mughal, Mehreen

Learning the properties of adaptive regions with functional data analysis

talk

Mun, Taher

Using imputation to build a diploid personal genome reference

poster

Munch, Robin

Predicting splice-switching oligonucleotides for cancer treatments using SpliceLearnTM

poster

Nalabolu, Harika Srividya

MOET—Multi ontology enrichment tool

poster

Narechania, Apurva

What do we gain when tolerating loss? The information bottleneck, lossy compression, and detecting horizontal gene transfer

talk

Narzisi, Giuseppe

Somatic variant analysis of linked-reads sequencing data with Lancet

poster

Natri, Heini M

Inherited genetic and non-coding somatic effects on gene expression and outcome in patients with multiple myeloma

poster

Navarro, Fabio

Deconvolving the pervasive transcription from jumping genes in RNA-seq and unveiling their role in tumors

talk

Nguyen, Peter

DNAnexus fine mapping for large-scale, end-to-end fine mapping on individual-level UKB datasets

poster

Nguyen, Son H

Real-time assembly using Nanopore sequencing data for microbial communities

talk

Nicholls, Samuel M

Detecting microbial transmission and engraftment after faecal microbiota transplants using long-read metagenomics and reticulatus

talk

Novikova, Gloriia

Integration of Alzheimer's genetics and myeloid genomics reveals novel disease risk mechanisms

poster/lightning talk

Ogeh, Denye N

The assembly and transcriptomic registry in Ensembl

poster

Olson, Andrew

TBrowse—A modular gene tree viewer for exploring functional conservation

poster

Olson, Andrew

Gramene subsites—Pangenome browsers for crops

talk

Orabi, Baraa

Annotation-free alternative splicing detection and discovery using long reads

poster

Orr, Adam J

KBBQ—A reference-free method for base quality score recalibration

poster

Ouyang, Ningxin

TRACE—Transcription factor footprinting using DNase I hypersensitivity data and DNA sequence

poster

Pan, Yang

PEGASAS—A pathway-guided approach for analyzing pre-mRNA alternative splicing during cancer progression

poster

Park, Eddie

Genetic variation and miRNAs fine-tune A-to-I RNA editing in human tissues

poster

Park, YoSon

CIMR—Deciphering complex trait genetics using a continuously integrated meta-resource

poster

Patro, Robert

Alignment and mapping methodology influence transcript abundance estimation

talk

Pertea, Mihaela

Efficient and robust transcriptome reconstruction from long-read RNA-seq alignments

talk

Peters, Mollie

Investigating sex-biased gene expression in the brain to explain Alzheimer’s disease mechanisms

poster

Phan, Lon

dbSNP—Integrating dbGaP aggregated allele frequency for variant interpretation

poster

Phillips, Nicholas

A deep learning approach to tumor cellularity estimation from tumor-only whole exome sequencing

poster

Pimentel, Harold

Genotype in plain sight—Inferring genotype from gene expression quantifications

poster

Pittman, Maureen

The disruption of 3D genome organization in congenital heart defects

poster/lightning talk

Pockrandt, Christopher

GenMap—Fast and exact computation of genome mappability

poster

Pollo, Stephen

MinION sequencing and structural variant analysis reveal important source of genetic variation in Giardia

poster

Pomella, Nicola

Characterisation of H3K4me3 histone mark width in medulloblastoma and its regulatory impact

poster

Potter, Robert F

Genomic and metatranscriptomic characterization of Gardnerella  during bacterial vaginosis

poster/lightning talk

Rafati, Nima

Hidden treasure in junk data—Characterizing sex chromosome in Atlantic herring using unmapped reads and long-read sequencing data

poster

Rajkovic, Andrei

Sub-continental ancestry inference based on the gnomAD dataset accurately classifies patients at NCH

talk

Ramachandran, Sohini

Characterization of prevalence and health consequences of uniparental disomy in four million individuals from the general population

talk

Ramaiah, Arunachalam

Genome landscape and associated structural features of chromosomes in Asian malaria mosquito Anopheles stephensi

poster

Ramakrishnan, Srividya

Improved gene annotation in 12 new high-quality tomato genome assemblies

poster

Ramani, Arun K

Expanding the boundaries of RNA sequencing as a diagnostic tool for rare Mendelian disease

poster

Ramos, Enrique I

Analysis of divergent long noncoding RNAs in estrogen-regulated transcription

poster

Ranallo-Benavidez, Timothy R

GenomeScope 2.0—Reference-free profiling of polyploid genomes

poster

Rangwala, Sanjida H

Completing the picture with NCBI’s Genome Data Viewer

poster

Reese, Fairlie K

A graphical representation of transcripts and transcript annotations

poster/lightning talk

Reis, Andre Luiz Martins

A universal and independent synthetic DNA scale to measure genetic features

poster

Rhie, Arang

Setting standards for defining high quality genome assemblies—Is my genome 'reference' quality?

poster

Ridout, Kate O

Patient stratification in the UK’s 100k Genomes Project—Using WGS and machine learning to predict cancer outcomes

talk

Roach, Nathan P

The full-length transcriptome of C. elegans using direct RNA sequencing

poster/lightning talk

Robbe, Pauline

Investigation of novel drivers in chronic lymphocytic leukemia using whole genome sequencing

poster

Rothfels, Karen

The Reactome Pathway Knowledgebase—Curation and visualization of disease-causing genetic variation and therapeutic strategies

poster

Rounthwaite, Robin L

Making genome graphs more concise—Normalization of suboptimally represented genetic variation

poster

Rozowsky, Joel

excerpt—A comprehensive analytic platform for extracellular RNA profiling

poster

Ruess, Holly M

Developing and maintaining reproducible workflows for bioinformatics data which are platform independent

poster

Sae-Ong, Tongta

Genomics insights into azole resistance in Aspergillus fumigatus

poster

Salameh, Tarik J

A supervised learning framework for detecting chromatin loops in genome wide interaction data

poster

Schneider, Valerie

Babies and bathwater—Balancing the need for stable coordinates and representation of post-GRCh38 chromosome improvements in the next human reference genome

poster

Schones, Dustin

Comparative epigenomics of liver metabolic response

poster

Schuilenburg, Helen

The Ensembl Variant Effect Predictor—Recent enhancements

poster

Sedlazeck, Fritz J.

Population level sequencing using long reads

poster

Semple, Colin

Increased novel variant load in an isolated Scottish population impacts exonic and regulatory regions

poster

Sheffield, Nathan

Refgenie—A reference genome resource manager

poster

Shumate, Alaina G

Liftoff—A pipeline for mapping genes onto high-quality genome assemblies

poster

Sienkiewicz, Karolina M

Molecular subtyping using nonnegative matrix tri-factorization

poster

Smith, Samuel A

The influence of local LD structure on cross-ancestry disease risk prediction

poster

Sorokin, Elena P

Model selection and permutation testing for association studies within a large direct-to-consumer genetic cohort

talk

Southwood, Dean

Benchmarking state-of-the-art genome assembly methods for eukaryotic genomes.

poster

Steinegger, Martin

New algorithms and tools for large-scale sequence analysis of metagenomic data

poster

Steinegger, Martin

Terminating contamination—Large-scale search identifies >300,000 contaminated entries in GenBank

poster

Stovner, Endre B

Pyranges—Efficient comparisons of genomic intervals in Python

poster/lightning talk

Subramanian, Sai Lakshmi

ClinGen clinical actionability curation tools, web services and knowledge repository

poster

Sun, Jiao

Platform-integrated mRNA isoform quantification

poster/lightning talk

Surujon, Defne

Entropy of a bacterial stress response is a generalizable predictor for fitness and antibiotic sensitivity

talk

Tat, Trinh T

High-resolution integrative analyses define precise cytoplasmic RNA recapping sites in mammalian cells

poster

Taylor, James

Inverting the model of genomic data sharing and analysis with the NHGRI Analysis, Visualization, and Informatics Lab-Space (AnVIL)

poster

Tello-Ruiz, Marcela K

Gramene—Comparative genomics, gene expression and pathway reference resources for plant communities

poster

Tesic, Nikola

QuagmiR—A cloud-based application for isomiR big data analytics

poster

Tirado-Oncosalud, Indira

Identification of housekeeping genes for the transcriptomic evaluation of lung cancer in NGS data

poster

Tomic, Vladimir

Evaluation of somatic and germline SV calling tools on simulated and real WGS data

poster

Treangen, Todd J

Fast graph-based identification of core and accessory regions in metagenomes via K-Core analysis

poster

Tseng, Elizabeth

Full-length transcript characterization for single cell RNA-seq analysis

talk

Tutaj, Monika

RGD—Integration of multispecies genetic data for studying human diseases

poster

Udayakumaran Nair Sunitha Kumary, Vishnu

Visualization and sequencing of dynamic accessible chromatin during cell cycle and post Romidepsin treatment

poster

Uno-Antonison, Angelina E

Methods, challenges, and recommendations for efficient collaboration in analytical bio-software development for clinical genomics applications

poster

Ursani, Ziauddin

A computational pipeline for precision variation discovery in repetitive DNA

poster

Valentine, Matthew

A transposable element-centric k-mer approach for functional classification of long non-coding RNAs

poster

Varabyou, Ales

Annotation-guided alignment of short RNA-seq reads for de-novo transcriptome assembly

poster

Vigorito, Elena

Mapping cis-eQTL from RNA-seq data with no genotypes

talk

Wagner, Justin

Using long and linked reads to expand the Genome in a Bottle small variant benchmark

poster

Wang, Liya

Access to MaizeCODE data via SciApps.org

poster

Wang, Tingyou

Comprehensive analysis of exitron splicing in human cancer

poster

Wang, Yuanyuan

Elucidating dynamics and regulation of alternative splicing using time-course RNA-seq data

poster

Weborg, Arthur M

Efficient dynamic encoding of WGS data for clinical analysis

poster

Wheeler, Gregory L

Clonality-aware somatic analysis for improved diagnosis and treatment of complex and recurrent cancers

poster

Wilk, Brandon M

PyxisMap—A translational tool for prioritizing genomic variation based on clinical phenotype

poster

Woolley-Allen, Katherine C

Integrated homotypic and heterotypic TF binding model points to evolution of combinatorial selectivity in the absence of high-affinity TF binding

poster/lightning talk

Worthey, Liz

Identification and interpretation of common and rare variants in relation to rare disease phenotype and outcome

talk

Wright, Adam J

MP-BioPath—Accurate prediction of pathway perturbations from curation datasets

poster

Wright, Sage

Whole-genome and epigenome analysis of breast cancer cell line T47D

poster

Wyman, Dana

A technology-agnostic long-read analysis pipeline for transcriptome discovery and quantification

talk

Ye, Ping

Associations between genomic variants of alcohol dehydrogenase genes and fetal alcohol syndromes in the Safe Passage Study

poster

Yerneni, Satwica

Spectrum and complexity of clinical bioinformatics requirements for an accredited diagnostic molecular laboratory specializing in hematological malignancy

poster

Yudanin, Naomi

Visualizing splicing-driven drug discovery—From theory to target

poster

Yukselen, Onur

DolphinNext—A graphical user interface for creating, deploying and executing Nextflow pipelines

poster

Yun, Taedong

Accurate, scalable cohort variant calls using DeepVariant and GLnexus

poster

Zhang, Yida

Regional variation of splicing QTLs in human brain

poster

Zhou, Naihui

Exploring the 3D spatial dependency of gene expression using Markov random fields

talk

Zimin, Alexey

Assembly of sequoia and redwood mega-genomes from Nanopore and Illumina reads

poster