HGGA

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

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

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

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

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