Description
Join this session to see 12 live poster talks, featuring all new content that was not presented at ASHG 2022. Each rapid-fire poster talk will be 5 minutes, followed by a brief Q&A with the presenter.
Moderator: Andrew Marderstein, PhD
Speakers:
- Whole Exome Sequencing revealed spectrum of mutations associated with different myopathy in clinically suspected DMD patients of Bangladesh, presented by Tamannyat Binte Eshaque, M.Sc. Contact this speaker
- ANO7 alters prostate cell mitochondrial gene expression and metabolism, presented by Nasrin Sultana, MS Contact this speaker
- Polygenic scoring and causal inference of posttraumatic stress disorder using electronic health records highlights association with cardiovascular and respiratory traits, presented by Gita Pathak, PhD Contact this speaker
- Multiomic association studies and finemapping prioritises WDR6 and immune pathways to be associated with anorexia nervosa, presented by Danielle Adams, BS/BA Contact this speaker
- The utility of whole exome sequencing in atypical cases of heterogeneous neurological disorders, presented by Zafar Ali, PhD
- A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss, presented by Farid Ullah, PhD
- Identification of Hypomorphic SEL1L-HRD1 ER-associated Degradation Variants in Infants, presented by Huilun (Helen) Wang, PhD Contact this speaker
- Comprehensive characterization of genetic influences on plasma metabolome in a pediatric cohort, presented by Sek Won Kong, MD Contact this speaker
- 300 Billion Associations – Genetic architecture of 2,071 phenotypes in 658,582 individuals of diverse ancestry in the VA Million Veteran Program, presented by Anurag Verma, PhD Contact this speaker
- CRISPR-Cas9 depletion of high expression genes in human fibroblast samples increases the diagnostic potential for rare disease, presented by Rosario Corona, PhD Contact this speaker
- Deep convolutional and conditional neural networks for large-scale genomic data generation, presented by Burak Yelman, PhD Contact this speaker
- Fundamental limitations on the transferability of polygenic risk scores across human populations, presented by Kaiqian Zhang, MS
