ASHG Annual Meeting 2022

Thursday, October 27
Cross-ancestry meta-analysis of tobacco use disorders based on electronic health record data uncovers novel loci and reveals associations with numerous health outcomes
1:45 PM – 2:00 PM
Presenter: Sandra Sanchez-Roige
Authors: M. Jennings, S. Toikumo, H. Lee, T. Mallard, S. Bianchi, B. Pham, N. Courchesne-Krak, M. Niarchou, Million Veteran Program, psycheMERGE Substance Use Disorder Workgroup, D. Hancock, K. Xu, J. Smoller, L. Davis, A. Justice, H. Kranzler, R. Kember, S. Sanchez-Roige
Full Session Details: Genetics of substance use disorders

*NOTE: all presentation times are in Pacific Time; bolded names indicate RTI researchers

Friday, October 28
Using the PhenX Toolkit to design studies optimized for data sharing 
12:30 PM – 1:30 PM
Presenters: Michelle Engle, Carol Hamilton  
Full Session Details: Registration   

*NOTE: all presentation times are in Pacific Time; bolded names indicate RTI researchers

Wednesday, October 26
Data-driven Clustering of Human Cardiovascular Disease (CVD) Related Variables
3:00 PM – 4:45 PM (Pacific)
Presenter: Meisha Mandal
Authors: M. Mandal, J. Levy, C. Ives, S. Hwang, Y. Zhou, A. Motsinger-Reif, H. Pan, W. Huggins, C. Hamilton, F. Wright, S. Edwards
Full Session Details: Complex Traits Posters

Wednesday, October 26
Genome-wide metabolite quantitative trait loci analysis in red blood cells from routine blood donors
3:00 PM – 4:45 PM
Presenter: Amy Moore
Authors: A. Moore, M. P. Busch, K. Dziewulska, E. A. Hod, J. C. Zimring, A. D’Allesandro, G. P. Page
Full Session Details: Complex Traits Posters

Wednesday, October 26
Non-inferiority of letter versus telephone genetic counseling for negative exome-based cancer genetic test results disclosure in a historically underserved population
3:00 PM – 4:45 PM
Presenter: Barbara Biesecker
Authors: M. J. Gilmore, M. C. Leo, L. Amendola, K. A. B. Goddard, J. E. Hunter, G. Joseph, T. L. Kauffman, B. Rolf, E. Shuster, J. Zepp, B. Biesecker
Full Session Details: Genetic Counseling, ELSI, Education, and Health Services Research Posters

Wednesday, October 26
MetaMatchMaker: An artificial Intelligence tool for data discovery and meta-data harmonization
3:00 PM – 4:45 PM
Presenter: Grier Page
Authors: G. Page, H. Pan, A. Blatecky, K. Burdekin, R. Chew, I. Glaze, C. Hamilton, R. Henao, C. Ives, M. Mandal, T. Reeve, D. Williams, X. Wu, E. Earley
Full Session Details: Genetic, Genomic, and Epigenomic Annotations, Databases and Resources Posters

Wednesday, October 26
PhenX presents Bone and Joint updates and expansion of Social Determinants of Health
3:00 PM – 4:45 PM
Presenter: Michelle Krzyzanowski
Authors: M. Krzyzanowski, M. Nelms, D. Williams, L. Cox, J. Schoden, C. Ives, A Brandow, P. Carroll, D. Felson, K. Norris, M. G. Cockburn, W. Huggins, D. Maiese, L. Gridley, P. West, X. Wu, M. Mandal, H. Pan, N. Jones, V. Marshall, T. Hendershot, C. Hamilton
Full Session Details: Genetic, Genomic, and Epigenomic Annotations, Databases and Resources Posters

Wednesday, October 26
Using the PhenX COVID-19 Collection and Variable Compare Tool
3:00 PM – 4:45 PM
Presenter: David Williams
Authors: D. Williams, M. Krzyzanowski, L. Cox, M. L. Engle, I. Glaze, W. Huggins, C. Ives, D. Maiese, T. Reeve, T. Hendershot, C. Hamilton
Full Session Details: Genetic, Genomic, and Epigenomic Annotations, Databases and Resources Posters

Wednesday, October 26
Discovery of rare variants associated with alcohol problems improved by leveraging machine learning phenotype prediction and empirical functional variant weighting
3:00 PM – 4:45 PM
Presenter: Mohammad Ahangari
Authors: M. Ahangari, A. Gentry, R. Kirkpatrick, T-H. Nguyen, K. Kendler, S-A. Bacanu, R. Peterson, B. Riley, B. Webb
Full Session Details: Statistical Genetics and Genetic Epidemiology Posters

Thursday, October 27
Considerations in developing a framework for defining clinical actionability of polygenic risk scores
3:00 PM – 4:45 PM
Presenter: Jessica Hunter
Authors: J. Hunter, A. Buchanan, J. Bulkley, M. Garcia-Closas, K. Goddard, S. Massimino, B. Powell, I. Kullo
Full session Details: Complex Traits Posters

Thursday, October 27
Differential gene expression analysis of alcohol use disorder across postmortem human brain tissues
3:00 PM – 4:45 PM
Presenter: Caryn Willis
Authors: C. Willis, J. White, B. Quach, S. Han, R. Tao, J. Shin, A. Deep-Soboslay, R. Mayfield, B. Webb, E. Johnson, J. Kleinman, L. Bierut, D. Hancock
Full Session Details: Complex Traits Posters

Thursday, October 27
Identifying compounds to treat opiate use disorder by leveraging multi-omic data integration and multiple drug repurposing databases
3:00 PM – 4:45 PM
Presenter: Jeran Stratford
Authors: J. Stratford, M. Carnes, M. Schu, B. Quach, C. Willis, R. Mathur, E. Johnson, J. Carter, T. Nolen, N. Vandergrift, T. Kosten, B. Webb
Full Session Details: Complex Traits Posters

Thursday, October 27
Identifying novel gene dysregulation associated with opioid overdose death: a meta-analysis of differential gene expression in human prefrontal cortex
3:00 PM – 4:45 PM
Presenter: Javan Carter
Authors: J. Carter, B. Quach, C. Willis, D. Hancock, J. Montalvo-Ortiz, R. Logan, C Walss-Bass, B. Maher, E. Johnson
Full Session Details: Complex Traits Posters

Thursday, October 27
Neurobiological pathways underling opioid addiction identified by systems biology multi-omic gene integration
3:00 PM – 4:45 PM
Presenter: Kyle Sullivan
Authors: K. Sullivan, D. Kainer, M. Lane, M. R. Garvin, A. Townsend, B. C. Quach, C. Willis, N. C. Gaddis, R. Mathur, O. Corradin, B. S. Maher, P. C. Scacheri, S. Sanchez-Roige, A. A. Palmer, V. Troiani, E. Chelser, D. B. Hancock, E. O. Johnson, D. A. Jacobson
Full Session Details: Complex Traits Posters

Thursday, October 27
Transcriptome-wide association analyses in CD4 T-cells identify genes dysregulated in frequent cocaine users and associated with HIV latent reservoir
3:00 PM – 4:45 PM
Presenter: Bryan Quach
Authors: B. Quach, C. Willis, D. Hancock, D. Konkle-Parker, H. Bolivar, C. Lahiri, E. Topper, M. Cohen, S. Kassaye, J. DeHovitz, M. Kuniholm, N. Archin, P. Tien, K. Xu, B. Aouizerat, E. Johnson
Full Session Details: Complex Traits Posters

Thursday, October 27
Evidence-Based Assertions of Clinical Actionability of Secondary Findings: Update from the ClinGen Actionability Working Group
3:00 PM – 4:45 PM
Presenter: Christine Pak
Authors: C. Pak, J. E. Bulkley, P. Chakraborty, M. J. Gilmore, A. M. Foreman, I. Futchi, C. L. Jenkins, A. Katz, K. Lee, A. Milosavljevic, J. O’Daniel, J. E. Posey, N. Shah, R. D. Steiner, A. B. Stergachis, S. Subramanian, T. Trotter, M. S. Williams, A. H. Buchanan, K. A. B. Goddard, K. Manickam, B. C. Powell, J. E. Hunter
Full Session Details: Genetic Counseling, ELSI, Education, and Health Services Research Posters

Thursday, October 27
Personal utility in genomic medicine: what is it and can we measure it?
3:00 PM – 4:45 PM
Presenter: Erin Turbitt
Authors: E. Turbitt, J. Kohler, F. Angelo, I. Miller, K. Lewis, K. Goddard, B. Wilfond, B. Biesecker, M. Leo
Full Session Details: Genetic Counseling, ELSI, Education, and Health Services Research Posters

Thursday, October 27
Utilization of Age-based Semi Quantitative Metric (ASQM) to evaluate gene-condition pairs for inclusion in Early Check’s newborn sequencing panel
3:00 PM – 4:45 PM
Presenter: Heidi Cope
Authors: H. Cope, L. Milko, C. M. Powell, N. DeJong, J. Hunter, A. K. Foreman, B. Powell, S. Shone, E. Jalazo, J. Berg, H. Peay
Full Session Details: Molecular and Cytogenetic Diagnostics Posters

Thursday, October 27
Alcohol use-disorder associated DNA methylation differences in human nucleus accumbens and dorsolateral pre-frontal cortex
3:00 PM – 4:45 PM
Presenter: Julie White
Authors: J. White, C. Willis, S. Han, R. Tao, A. Deep-Soboslay, R. D. Mayfield, B. T. Webb, E. O. Johnson, J. E. Kleinman, L. J. Bierut, D. B. Hancock
Full Session Details: Epigenetics Posters

Thursday, October 27
Epigenome-wide association meta-analysis of DNA methylation with lifetime cannabis use
3:00 PM – 4:45 PM
Presenter: Fang Fang
Authors: F. Fang, B. Quach, K. G. Lawence, J. van Dongen, J. A. Marks, S. Lundgren, M. Lin, V. V. Odintsova, R. Costeira, Z. Xu, L. Zhou, M. Mandal, J. Vink, L. J. Bierut, M. Ollikainen, J. Taylor, J. Bell, J. Kaprio, D. Boomsma, K. Xu, D. P. Sandler, D. Hancock, E. Johnson
Full Session Details: Epigenetics Posters

Thursday, October 27
A Cox proportional hazards whole genome sequencing study of ischemic stroke risk in Brazilian sickle cell population
3:00 PM – 4:45 PM
Presenter: Eric Earley
Authors: E. Earley, F. Fang, E. Sabino, C. Dinardo, S. Kelly, B. Custer, G. Page
Full Session Details: Statistical Genetics and Genetic Epidemiology Posters

Thursday, October 27
Smoking-informed methylation QTLs in human nucleus accumbens
3:00 PM – 4:45 PM
Presenter: Megan Carnes
Authors: M. Carnes, B. Quach, L. Zhou, R. Tao, A. Deep-Soboslay, L. Bierut, B. Maher, A. Jaffe, T. Hyde, J. Kleinman, E. O. Johnson, D. Hancock
Full Session Details: Statistical Genetics and Genetic Epidemiology Posters

*NOTE: all presentation times are in Pacific Time; bolded names indicate RTI researchers

Early Check and Newborn Screening
Coordinating Centers for Multisite Studies
NIDA P50 Center for Excellence
Nutrition for Precision Health (NPH)
The Pelvic Floors Disorders Network (PFDN)
mapMECFS
Environmental Influences on Child Outcomes (ECHO)

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