2022 ASHG Annual Meeting
Event Details
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
All times in Pacific Time (PT).
Poster Talks
| Time | Track | Details | Location |
|---|---|---|---|
| Tuesday, October 25, 2022 | |||
| 7:57 p.m. — 8:00 p.m. | Mendelian Phenotypes | Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal development Board No. PB1874 Sangwoo Han |
Convention Center, Petree C/West Building |
Platform
| Time | Track | Details | Location |
|---|---|---|---|
| Thursday, October 27, 2022 | |||
| 1:45 p.m. — 2:45 p.m. | Basic/ Fundamental/ Translational |
Multi-omics insights into the biological mechanisms underlying gene-by-smoking and gene-by-alcohol consumption interactions Prog Nbr 298 Amy Bentley |
Conv Ctr/Room 502/West Building |
Posters
| Time | Track | Details | Location |
|---|---|---|---|
| Wednesday, October 26, 2022 | |||
| 3:00 p.m. — 4:45 p.m. | Complex Traits | Classical HLA Alleles are Associated with Fasting Glucose and Type 2 Diabetes in Multiple Populations Board No. PB1301 Guanjie Chen |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Reviewer's Choice/ Complex Traits | Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in the All of Us Research Program Board No. PB1600 Slavina Goleva |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m | Complex Traits | Sequencing-based genome-wide association study of triglycerides in East Africans Board No. PB1625 Karlijn Meeks |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | A novel splice-site variant causes MYH2-associated myopathy in a large family Board No. PB1743 Thomas Cassini |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | Genetic analysis reveals that GNE Myopathy remains an underdiagnosed neuromuscular disorder Board No. PB1848 Francis Rossignol |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Quantification of race, ethnicity, and genetic ancestry disparities in anti-hypertensive drug efficacy in the All of Us Research Program Board No. PB2140 Lucia Hindorff |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Family communication choices about neurodevelopment/psychiatric genetic results" A social-network assessment of adult participants in a population-based genomic screening program Board No. PB2180 Karen Wain |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Return of secondary genomic findings: Experiences of sickle cell disease research participants Board No. PB2224 Jameson Floyd |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Omics Technologies | Extensive Differential cell type-specific gene expression and regulation by sex in human skeletal muscle Board No. PB2989 Sarah Hanks |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Improving Community Based Genomics Research in Black Populations: A Review of Lessons Learned and Ideas for Need Based Solutions Board No. PB2197 Calandra Whitted |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Omics Technologies | Integrative single-nucleus multi-omics across 287 skeletal muscle biopsies reveals context-specific e/caQTL and extensive caQTL-GWAS colocalization Board No. PB3049 Stephen Parker |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Molecular Affects of Genetic Variation | Calibration set for high throughput functional assay for RYR1 Variants Board No. PB2526 Jennifer Johnson |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Molecular Affects of Genetic Variation | Comparison of pedigree-based graph workflow to more traditional workflows for rare candidate variant analysis Board No. PB2541 Barbara Pusey |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Molecular Affects of Genetic Variation | Identifivation of polyadenylation signals relevant to Mendelian disease variant interpretation Board No. PB2620 Henoke Shiferaw |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Evolutionary and Population Genetics | Newfoundland and Labrador: A mosaic founder population of an Irish and British diaspora from 300 years ago Board No. PB2824 Edmund Gilbert |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Omics Technologies |
Systematic evaluation of transcriptome sequencing applied to real-world rare disease cohorts: Insights and limitations |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Omics Technologies | Transcriptome signature of sodium intake in and links to cardiovascular traits Board No. PB3169 Amadou Gaye |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic, Genomic and Epigenomic Annotations, Databases and Resources | Rare Disease Phenotyping: What is Next? Board No. PB3237 David Adams |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Statistical Genetics and Genetic Epidemiology | Local Ancestry at the MHC region id asscociated with disease heterogeneity in multi-ethnic lupus cohort Board No. PB3491 Olivia Solomon |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Barriers to genetic testing when indicated at diagnosis for autism spectrum disorder Board No. PB2146 Amy Wang |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | Pulmonary function and structure in young adults with types II, IV, and VI osteogenesis imperfecta Board No. PB1949 Bernadette Gochuico |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Statistical Genetics and Genetic Epidemiology | Developing an African American population-based transcriptome predicion model from the GENE-FORCAST cohort Board No. PB3364 Gabriel Goodney |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | Genomic ascertainment and reverse phenotyping diabetogenic variants in a phenotypically unselected cohort Board No. PB1859 Caralynn Wilczewski |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Exploring stigma and discrimination among adults after receipt of neurodevelopmental/psychiatric genetic results in a population-based genomic Board No. PB2177 Olivia P Matshabane |
Convention Center, South Exhibit Hall |
| Thursday, October 27, 2022 | |||
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | Human brains with Tay Sachs disease exhibit altered transcriptomes during fetal development Board No. PB1874 Sangwoo Han |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Cancer | Germline sequencing of DNA damage repair genes in two hereditary prostate cancer cohorts reveals rare risk-associated Board No. PB1123 Georgea Foley |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Mendelian Phenotypes | Atypical molecular findings in patients with capillary malformations Board No. PB1760 Carolina Maria Montano |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Prenatal, Perinatal, and Developmental Genetics | Phenomic and genomic analyses of endometriosis in the All of Us Research Program Board No. PB2109 David Schlueter |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Genetic Counseling, ELSI, Education, and Health Services Research | Developing Recommendations for Direct-to-Consumer Genetic Testing Board No. PB2161 Houriya Ayoubieh |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Reviewer's Choice | Subsetting systemic lupus erythematosus patients based on clustering of DNA methylation at the time of disease flare Board No. PB2470 Mary Horton |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Molecular Effects of Genetic Variation | Mitotic recombination is a common mechanism of cellular mosaicism in Fanconi anemia Board No. PB2649 Frank Donovan |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Evolutionary and Population Genetics | Genetic landscape and demographic history of Britain and Ireland Board No. PB2791 Edmund Gilbert |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Omics Technologies | Population diversity and selection if recent gene populations detected using a complete human genome sequence Board No. PB3105 Daniela Soto |
Convention Center, South Exhibit Hall |
| 3:00 p.m. — 4:45 p.m. | Reviewer's Choice | Subcontinental Admixture in Individuals with European Ancestry and Implications for Genetic Epidemiology Board No. PB3593 Mateus Gouveia |
Convention Center, South Exhibit Hall |
Funded Resources
| Time | Track | Details | Location |
|---|---|---|---|
| Wednesday, October 26, 2022 | |||
| 3:00 p.m. — 4:45 p.m. | Evolutionary and Public Gnetics | The NHGRI Sample Repository for Human Genetic Research: biospecimens and a new genomic data search tool Board No. PB2857 Ashley Liautaud |
Convention Center, South Exhibit Hall |
| Thursday, October 27, 2022 | |||
| 3:00 p.m. — 4:45 p.m. | Omics Technologies | Aunified computing environment for genomics data storage, management, and analysis: NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-Space Board No. PB2895 Stephen Mosher |
Convention Center, South Exhibit Hall |
Events
| Date | Track | Details | Location |
|---|---|---|---|
| Wednesday, October 26, 2022 | |||
| 7:00 a.m. — 8:30 a.m. | Ancillary | Applying for NIH Grants: Strategies for Success | |
| 8:30 a.m. — 10:00 a.m. | Platform | High-throughput characterization of coding variants, from benchtop to desktop David Adams |
Convention Center, Petree C/West Building |
| 5:15 p.m. — 5:35 p.m. | Plenary | Multi-omic profiling 2014. 494 cells and nuclei from human islet donors under basal and stimulatory conditions nominates casual cell types, genes, and regualtory element contexts at T1D GWAS loci Catherine Robertson |
Convention Center, West Hall A/West Building |
| Thursday, October 26, 2022 | |||
| 12:15 p.m. — 1:45 p.m. | Ancillary | NHGRI Building a Diverse Workforce: Listening to the Voices of Trainees and Early-Stage Scientists | |
| 2:30 p.m. — 2:45 p.m. | Platform | Pharmacogenetic Investigation of SSRI or SNRI-induced SIADH in All of Us Huan Mo |
Convention Center, Concourse Hall F/West Building |
| Friday, October 28, 2022 | |||
| 10:30 a.m. — 12:00 p.m. | Platform | Extended applications of polygenic risk scores Adebowale Adeyemo |
Convention Center, Concourse Hall E/West Building |
| 10:30 a.m. — 12:00 p.m. | Platform | Integrating transciptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk Xianyong Yin |
Convention Center, Room 515/West Building |
| 4:00 p.m. — 5:00 p.m. | Platform | Therapeutic insights leveraged from preclinical models of disease Francis Rossignol |
Convention Center, Petree D/West Building |
| 4:45 p.m. — 5:00 p.m. | Platform | Trans-ancestry genome wide association of uterine fibroids in All of Us Research Program Ariel Williams |
Convention Center, Concourse Hall F/West Building |
| Saturday, October 29, 2022 | |||
| 7:30 a.m. — 9:00 a.m. | Workshop | How to Use The Human Pangenome Reference in AnVIL Tina Lindsay |
Convention Center, Room 403/South Building |
| 12:00 p.m. — 1:00 p.m. | Presentation | Concurrent Thematic Roundtable Discussion 1: Basic Science Research: Genome biology and complex traits Melissa Gymrek & Carolyn Hutter |
Convention Center, Petree C/West Building |
Last updated: October 25, 2022