HGGA

Zhaotong Lin, PhD

Inside HGG Advances: A Chat with Zhaotong Lin

Posted By: HGG Advances HGGA:  What motivated you to start working on this project? ZL: Mendelian randomization (MR) is a powerful and increasingly popular tool for understanding the causal relationships between complex traits and diseases, especially with the growing availability of GWAS summary statistics. However, MR consistently faces the challenge of horizontal pleiotropy. While there... Read More

Rebecca Meyer Schuman

Inside HGG Advances: A Chat with Rebecca Meyer Schuman

Posted By: HGG Advances HGGA:  What motivated you to start working on this project? RMS: The traditional approach to using model organisms is to introduce disease-associated variants and test for disease mechanisms. We wanted to try to flip this paradigm around, using what we knew about the properties of pathogenic aminoacyl-tRNA synthetase (ARS) variants to... Read More

Sara Azidane Chenlo

Inside HGG Advances: A Chat with Sara Azidane Chenlo

Posted By: HGG Advances HGGA:  What motivated you to start working on this project? SAC: I’ve always been fascinated by the human brain, its intricate functioning, the emotional patterns that regulate it, and its ways of encoding reality. I am particularly intrigued by the challenges and limitations faced by individuals who don’t fit within neuronormativity.... Read More

Rachel Youjin Oh, MD, is a fourth year resident in the Medical Genetics and Genomics program at the University of Toronto and the Hospital for Sick Children.

Inside HGG Advances: A Chat with Rachel Oh

Posted By: HGG Advances HGGA: What motivated you to start working on this project? RO: Accurate variant interpretation is essential to both genome diagnostics and screening in medical genetics. Canonical splice site variants (CSSVs) are considered “null variants” (in the same category as nonsense, frameshift, initiation codon, single or multi-exon deletion variants) in a gene... Read More

Diptavo Dutta, PhD is an investigator in the Division of Cancer Epidemiology & Genetics at the National Cancer Institute.

Inside HGG Advances: A Chat with Diptavo Dutta

Posted By: HGG Advances HGGA: What motivated you to start working on this project? DD: The scientific motivation of this work was to investigate, for diseases, whether there are tissues beyond the obvious candidates where genes might manifest associations, and if so, can we interpret such findings from an etiologic viewpoint. The statistical method is... Read More

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