The American Society of Human Genetics (ASHG) annual meeting is the largest human genetics and genomics meeting and exposition in the world. It provides a forum for presenting and discussing cutting-edge science in all areas of human genetics.
The meeting was held November 5-9 in Denver, Colorado. Several Duke faculty and trainees participated:
Speakers and Moderators:
Guienevere Connelly, Graduate Student, Ko Lab
Platform Talk: Splice Switch: An investigation on the effect of a sQTL on PAPR2 isoforms and subsequent influenza A virus susceptibility
Yuncheng Duan, PhD, Postdoctoral Associate, Crawford Lab
Platform Talk: Interpreting Regulatory Differences between Species in Terms of Potential Cis- and Trans- Mechanisms
Angela Jones, Graduate Student, Ko Lab
Platform Talk: Let’s talk about sex: how biological sex affects functional variation across the genome to alter risk of human disease
Boxun Li, PhD, Postdoctoral Fellow, Gersbach Lab
Platform Talk: Functional genomics applied to mapping the gene regulatory mechanisms downstream of neuron-astrocyte interactions
Beth Sullivan, PhD, James B. Duke Distinguished Professor of Molecular Genetics and Microbiology
Moderator: Plenary session - cutting edge research in human genetics and genomics
Poster Presentations
Konstantin Arbeev, PhD, Associate Research Professor in the Social Science Research Institute
GWAS of overweight, not obesity, identifies new genes associated with overweight in two datasets
Odmaa Bayaraa, Graduate Student, Gregory Lab
Mapping AD Progression: Multi-region spatial transcriptomics to study susceptibility to amyloid beta (Aβ) plaque in Alzheimer's Disease (AD)
Bide Chen, Graduate Student, Goldberg Lab
Long-read de novo assembly and comparative analysis of six howler monkey genomes within genus Alouatta
Trisha Dalapati, Graduate Student, Ko Lab
Context-specific eQTLs reveal causal genes underlying shared genetic architecture of critically ill COVID-19 and idiopathic pulmonary fibrosis
Katherine Dura Graduate Student, Reddy Lab
Predicting GWAS causal variants from individually assayed regulatory effects
Rachel Field, Undergraduate Student, Silver Lab
UBE2A mutations linked to X-linked intellectual disability type Nascimento produce variable effects on protein stability and stress resistance
Daniel Gingerich, Bioinformatician, Dept. of Neurology
Exploring the genetic complexity of Alzheimer’s disease in African ancestry using single-cell multi-omics integrative analysis
Zhuoran Hou, Graduate Student, Ochoa Lab
Kinship estimation bias carries over to heritability estimation bias using variance components
Apoorva Iyengar, Graduate Student, Reddy Lab
Identifying and therapeutically targeting novel splice defects in Glycogen Storage Disease IX
Gabriel Kennedy, Graduate Student, Goldberg Lab
Inference of recent population histories by combining genetic and archeological data
Kalyani Kottilil, Graduate Student, Shah Lab
Integration of proteomics and CpG methylation sites identifies novel biomarkers and biology of early-stage heart failure
Alexander Kulminski, PhD,Research Professor in the Social Science Research Institute
Sex-specific genetic underpinnings of Alzheimer’s disease and body mass index
Anvita Kulshrestha, Graduate Student, Ashley-Koch Lab
Genome-wide association study reveals novel loci associated with acute chest syndrome in sickle cell disease patients
Lydia Coulter Kwee, PhD, Senior Biostatistician, Duke Molecular Physiology Institute
Single-cell RNA sequencing of plasmacytoid dendritic cells implicates inflammatory pathways in primary graft dysfunction after heart transplantation
Elijah Lawrence, Graduate Student, MSTP Program
Overlap of adaptive genetic signatures between Andeans and Tibetans demonstrates convergent signals of natural selection
Tuhin Majumder, PhD, Postdoctoral Researcher, Chan and Xie Labs
InterSpatial: Bi-directional Integration of Single Cell RNA-seq and Spatial Transcriptomic Data
Ratchanon Pornmongkolsuk, Graduate Student, Ochoa Lab
Evaluation of imputation methods for ancient African DNA
Megan Ramaker, PhD, Bioinformatician, Shah Lab
Large scale characterization of disease expressivity in carriers of inherited cardiovascular disease pathogenic variants in the UK Biobank.
Andrew Ressler, PhD, Postdoctoral Associate, Marchuk Lab
Somatic CNVs in oncogenic and vascular malformation genes enriched in Cerebral Cavernous Malformations
Tiffany Tu, Graduate Student, Reker Lab
Genetic association meta-analysis is susceptible to confounding by between-study cryptic relatedness
Liuyang Wang, PhD, Assistant Research Professor of Molecular Genetics and Microbiology, Ko Lab
Single-Cell Genomic Dissection of Human Genetic Control of Alternative Splicing in Response to Various Influenza Strainsokhjj